nsv4378623

Organism: Homo sapiens

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

Variant Calls:41
Validation:Not tested
Clinical Assertions: No
Region Size:40,670

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: 1216 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):254,254-294,923

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4378623	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	254,254	294,923
nsv4378623	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	254,254	294,923

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15612036	copy number loss	1-0642-003	SNP array	Genotyping	19
nssv15612559	copy number loss	1-0698-003	SNP array	Genotyping	23
nssv15613687	copy number loss	1-0013-003	SNP array	Genotyping	27
nssv15619796	copy number loss	1-0908-003	SNP array	Genotyping	22
nssv15623084	copy number loss	1-1052-003	SNP array	Genotyping	23
nssv15634008	copy number loss	11-0021-001	SNP array	Genotyping	27
nssv15636724	copy number loss	14-0024-002	SNP array	Genotyping	28
nssv15647705	copy number gain	2-0318-003	SNP array	Genotyping	22
nssv15648459	copy number loss	2-1329-003	SNP array	Genotyping	16
nssv15649028	copy number loss	2-1169-002	SNP array	Genotyping	20
nssv15649170	copy number loss	2-1258-004	SNP array	Genotyping	26
nssv15650100	copy number loss	2-1294-004	SNP array	Genotyping	20
nssv15653876	copy number loss	2-1598-003	SNP array	Genotyping	18
nssv15656107	copy number loss	3-0657-000	SNP array	Genotyping	16
nssv15656276	copy number loss	3-0719-001	SNP array	Genotyping	16
nssv15659110	copy number loss	4-0064-004	SNP array	Genotyping	23
nssv15659128	copy number loss	4-0065-001	SNP array	Genotyping	19
nssv15660905	copy number loss	4-0053-004	SNP array	Genotyping	18
nssv15667503	copy number loss	5-0144-003	SNP array	Genotyping	30
nssv15668170	copy number loss	7-0150-003	SNP array	Genotyping	26
nssv15669947	copy number loss	7-0254-003	SNP array	Genotyping	14
nssv15673155	copy number loss	9-0028-003	SNP array	Genotyping	16
nssv15677255	copy number loss	237803S	SNP array	Genotyping	30
nssv15677751	copy number loss	234354	SNP array	Genotyping	24
nssv15678989	copy number loss	240259S	SNP array	Genotyping	18
nssv15682415	copy number loss	OCD111-S_1658	SNP array	Genotyping	24
nssv15685316	copy number loss	OCD117-B_1699	SNP array	Genotyping	29
nssv15686227	copy number loss	OCD21-S_896392	SNP array	Genotyping	26
nssv15686366	copy number loss	OCD134-S_0625-8972-2	SNP array	Genotyping	22
nssv15688714	copy number loss	OCD44-B_AH-1374	SNP array	Genotyping	19
nssv15689805	copy number loss	OCD115-S_1690	SNP array	Genotyping	25
nssv15690011	copy number loss	OCD1162-S_0625-9550-3	SNP array	Genotyping	23
nssv15690655	copy number loss	OCD159-CP-1440	SNP array	Genotyping	28
nssv15691489	copy number loss	OCD44-B_JH-1376	SNP array	Genotyping	15
nssv15692613	copy number loss	OCD68-896042	SNP array	Genotyping	31
nssv15694694	copy number loss	211008	SNP array	Genotyping	23
nssv15695273	copy number loss	153028	SNP array	Genotyping	17
nssv15696275	copy number loss	157166	SNP array	Genotyping	19
nssv15696831	copy number loss	198401	SNP array	Genotyping	23
nssv15697608	copy number loss	170508	SNP array	Genotyping	18
nssv15698250	copy number loss	90785	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15612036	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15612559	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15613687	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15619796	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15623084	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15634008	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15636724	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15647705	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15648459	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15649028	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15649170	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15650100	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15653876	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15656107	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15656276	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15659110	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15659128	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15660905	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15667503	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15668170	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15669947	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15673155	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15677255	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15677751	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15678989	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15682415	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15685316	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15686227	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15686366	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15688714	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15689805	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15690011	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15690655	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15691489	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15692613	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15694694	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15695273	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15696275	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15696831	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15697608	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15698250	Remapped	Perfect	NC_000006.12:g.(?_ 254254)_(294923_?) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	254,254	294,923
nssv15612036	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15612559	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15613687	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15619796	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15623084	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15634008	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15636724	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15647705	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) dup	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15648459	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15649028	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15649170	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15650100	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15653876	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15656107	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15656276	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15659110	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15659128	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15660905	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15667503	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15668170	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15669947	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15673155	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15677255	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15677751	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15678989	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15682415	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15685316	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15686227	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15686366	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15688714	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15689805	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15690011	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15690655	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15691489	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15692613	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15694694	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15695273	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15696275	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15696831	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15697608	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923
nssv15698250	Submitted genomic		NC_000006.11:g.(?_ 254254)_(294923_?) del	GRCh37 (hg19)		NC_000006.11	Chr6	254,254	294,923

dbVar

Database of genomic structural variation

nsv4378623

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