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dbVar

Database of genomic structural variation

nsv4368591

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:109,870

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: 481 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):120,876,049-120,985,918

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4368591	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nsv4368591	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	120,009,903	120,119,772

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15628128	copy number gain	1-0534-006	SNP array	Genotyping	19
nssv15630521	copy number gain	1-0574-004	SNP array	Genotyping	19
nssv15630816	copy number gain	1-0625-003	SNP array	Genotyping	15
nssv15632756	copy number gain	10-0007-003	SNP array	Genotyping	15
nssv15637634	copy number loss	14-0130-003	SNP array	Genotyping	24
nssv15644784	copy number loss	16-1007-004	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15628128	Remapped	Perfect	NC_000023.11:g.(?_ 120876049)_(120985 918_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nssv15630521	Remapped	Perfect	NC_000023.11:g.(?_ 120876049)_(120985 918_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nssv15630816	Remapped	Perfect	NC_000023.11:g.(?_ 120876049)_(120985 918_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nssv15632756	Remapped	Perfect	NC_000023.11:g.(?_ 120876049)_(120985 918_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nssv15637634	Remapped	Perfect	NC_000023.11:g.(?_ 120876049)_(120985 918_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nssv15644784	Remapped	Perfect	NC_000023.11:g.(?_ 120876049)_(120985 918_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	120,876,049	120,985,918
nssv15628128	Submitted genomic		NC_000023.10:g.(?_ 120009903)_(120119 772_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	120,009,903	120,119,772
nssv15630521	Submitted genomic		NC_000023.10:g.(?_ 120009903)_(120119 772_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	120,009,903	120,119,772
nssv15630816	Submitted genomic		NC_000023.10:g.(?_ 120009903)_(120119 772_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	120,009,903	120,119,772
nssv15632756	Submitted genomic		NC_000023.10:g.(?_ 120009903)_(120119 772_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	120,009,903	120,119,772
nssv15637634	Submitted genomic		NC_000023.10:g.(?_ 120009903)_(120119 772_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	120,009,903	120,119,772
nssv15644784	Submitted genomic		NC_000023.10:g.(?_ 120009903)_(120119 772_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	120,009,903	120,119,772

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

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