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dbVar

Database of genomic structural variation

nsv4385116

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:20,398

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: 455 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):97,524,849-97,545,246

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4385116	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	97,524,849	97,545,246
nsv4385116	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	98,141,312	98,161,709

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15636818	copy number gain	13-0161-001	SNP array	Genotyping	16
nssv15675132	copy number gain	222671	SNP array	Genotyping	30
nssv15682218	copy number gain	222684	SNP array	Genotyping	25

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15636818	Remapped	Perfect	NC_000002.12:g.(?_ 97524849)_(9754524 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	97,524,849	97,545,246
nssv15675132	Remapped	Perfect	NC_000002.12:g.(?_ 97524849)_(9754524 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	97,524,849	97,545,246
nssv15682218	Remapped	Perfect	NC_000002.12:g.(?_ 97524849)_(9754524 6_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	97,524,849	97,545,246
nssv15636818	Submitted genomic		NC_000002.11:g.(?_ 98141312)_(9816170 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	98,141,312	98,161,709
nssv15675132	Submitted genomic		NC_000002.11:g.(?_ 98141312)_(9816170 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	98,141,312	98,161,709
nssv15682218	Submitted genomic		NC_000002.11:g.(?_ 98141312)_(9816170 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	98,141,312	98,161,709

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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