nsv4385648

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:43
Validation:Not tested
Clinical Assertions: No
Region Size:33,063

Publication(s):Zarrei et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 960 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):1,580,128-1,613,190

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4385648	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nsv4385648	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	1,560,774	1,593,836

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15612939	copy number loss	1-0692-003	SNP array	Genotyping	17
nssv15615269	copy number loss	1-0765-003	SNP array	Genotyping	26
nssv15617062	copy number loss	1-0857-003	SNP array	Genotyping	14
nssv15620483	copy number loss	1-0937-003	SNP array	Genotyping	21
nssv15622310	copy number loss	1-1027-003	SNP array	Genotyping	23
nssv15623912	copy number loss	1-0271-004	SNP array	Genotyping	29
nssv15625339	copy number loss	1-0332-003	SNP array	Genotyping	22
nssv15627412	copy number loss	1-0539-003	SNP array	Genotyping	16
nssv15630901	copy number loss	1-0628-004	SNP array	Genotyping	20
nssv15631533	copy number loss	1-0636-003	SNP array	Genotyping	23
nssv15632386	copy number loss	10-0004-003	SNP array	Genotyping	16
nssv15652943	copy number loss	2-1558-001	SNP array	Genotyping	24
nssv15655109	copy number loss	2-1686-003	SNP array	Genotyping	23
nssv15656356	copy number loss	4-0027-001	SNP array	Genotyping	22
nssv15657930	copy number loss	3-0439-000	SNP array	Genotyping	20
nssv15663806	copy number loss	5-0126-002	SNP array	Genotyping	27
nssv15663972	copy number loss	5-0143-003	SNP array	Genotyping	22
nssv15665384	copy number loss	7-0033-003	SNP array	Genotyping	17
nssv15668797	copy number loss	7-0228-003	SNP array	Genotyping	18
nssv15672924	copy number loss	9-0010-002	SNP array	Genotyping	13
nssv15674021	copy number loss	9-0030-003	SNP array	Genotyping	20
nssv15677344	copy number loss	242267S	SNP array	Genotyping	14
nssv15681566	copy number loss	240253S	SNP array	Genotyping	27
nssv15682319	copy number loss	OCD11-S_896192	SNP array	Genotyping	17
nssv15684905	copy number loss	OCD15-B_MN-1465	SNP array	Genotyping	20
nssv15687055	copy number loss	OCD39-S_0625-1152-2	SNP array	Genotyping	27
nssv15687250	copy number loss	OCD4-S_896091	SNP array	Genotyping	23
nssv15688770	copy number loss	OCD46-S_0625-5375-3	SNP array	Genotyping	16
nssv15689274	copy number loss	OCD10-S_896171	SNP array	Genotyping	23
nssv15690678	copy number loss	OCD159-HM-1439(189732)	SNP array	Genotyping	26
nssv15691308	copy number loss	OCD4-S_896093	SNP array	Genotyping	26
nssv15691500	copy number loss	OCD44-B_KH-1375	SNP array	Genotyping	19
nssv15694685	copy number loss	211008	SNP array	Genotyping	23
nssv15694725	copy number loss	216093	SNP array	Genotyping	17
nssv15695865	copy number loss	212974	SNP array	Genotyping	20
nssv15696871	copy number loss	79225	SNP array	Genotyping	20
nssv15697092	copy number loss	80446	SNP array	Genotyping	26
nssv15697422	copy number loss	157175	SNP array	Genotyping	16
nssv15698646	copy number loss	178826	SNP array	Genotyping	20
nssv15699942	copy number loss	200424	SNP array	Genotyping	20
nssv15701536	copy number loss	206133	SNP array	Genotyping	18
nssv15701859	copy number loss	214095	SNP array	Genotyping	23
nssv15701876	copy number loss	79330	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15612939	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15615269	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15617062	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15620483	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15622310	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15623912	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15625339	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15627412	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15630901	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15631533	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15632386	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15652943	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15655109	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15656356	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15657930	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15663806	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15663972	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15665384	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15668797	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15672924	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15674021	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15677344	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15681566	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15682319	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15684905	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15687055	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15687250	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15688770	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15689274	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15690678	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15691308	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15691500	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15694685	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15694725	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15695865	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15696871	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15697092	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15697422	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15698646	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15699942	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15701536	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15701859	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15701876	Remapped	Perfect	NC_000020.11:g.(?_ 1580128)_(1613190_ ?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	1,580,128	1,613,190
nssv15612939	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15615269	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15617062	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15620483	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15622310	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15623912	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15625339	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15627412	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15630901	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15631533	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15632386	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15652943	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15655109	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15656356	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15657930	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15663806	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15663972	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15665384	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15668797	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15672924	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15674021	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15677344	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15681566	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15682319	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15684905	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15687055	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15687250	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15688770	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15689274	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15690678	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15691308	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15691500	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15694685	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15694725	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15695865	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15696871	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15697092	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15697422	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15698646	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15699942	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15701536	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15701859	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836
nssv15701876	Submitted genomic		NC_000020.10:g.(?_ 1560774)_(1593836_ ?)del	GRCh37 (hg19)		NC_000020.10	Chr20	1,560,774	1,593,836

dbVar

Database of genomic structural variation

nsv4385648

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant