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dbVar

Database of genomic structural variation

nsv4387596

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:27,447

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: 942 SVs from 85 studies. See in: genome view

Remapped(Score: Perfect):11,067,331-11,094,777

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4387596	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nsv4387596	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	11,219,930	11,247,376

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15619756	copy number gain	1-0906-003	SNP array	Genotyping	26
nssv15625745	copy number gain	1-0346-004	SNP array	Genotyping	10
nssv15626369	copy number gain	1-0413-003	SNP array	Genotyping	15
nssv15634233	copy number gain	11-0002-003	SNP array	Genotyping	21
nssv15654318	copy number gain	2-1626-003	SNP array	Genotyping	23
nssv15658428	copy number gain	4-0038-002	SNP array	Genotyping	32
nssv15694270	copy number gain	OCD84-896822	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15619756	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15625745	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15626369	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15634233	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15654318	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15658428	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15694270	Remapped	Perfect	NC_000012.12:g.(?_ 11067331)_(1109477 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,067,331	11,094,777
nssv15619756	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376
nssv15625745	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376
nssv15626369	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376
nssv15634233	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376
nssv15654318	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376
nssv15658428	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376
nssv15694270	Submitted genomic		NC_000012.11:g.(?_ 11219930)_(1124737 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	11,219,930	11,247,376

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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