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dbVar

Database of genomic structural variation

nsv6627754

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:33,410

Publication(s):Zarrei et al. 2023

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: 288 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):13,097,729-13,131,138

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6627754	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nsv6627754	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	13,237,854	13,271,263

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18302520	duplication	OSC5838	SNP array	Probe signal intensity	6
nssv18308522	duplication	OSC6792	SNP array	Probe signal intensity	11
nssv18310636	duplication	OSC7172	SNP array	Probe signal intensity	10
nssv18313451	duplication	OSC7695	SNP array	Probe signal intensity	nssv18313450, nssv18313449, nssv18313448
nssv18313752	duplication	OSC7888	SNP array	Probe signal intensity	12
nssv18317826	duplication	OSC8483	SNP array	Probe signal intensity	5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18302520	Remapped	Perfect	NC_000002.12:g.(?_ 13097729)_(1313113 8_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nssv18308522	Remapped	Perfect	NC_000002.12:g.(?_ 13097729)_(1313113 8_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nssv18310636	Remapped	Perfect	NC_000002.12:g.(?_ 13097729)_(1313113 8_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nssv18313451	Remapped	Perfect	NC_000002.12:g.(?_ 13097729)_(1313113 8_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nssv18313752	Remapped	Perfect	NC_000002.12:g.(?_ 13097729)_(1313113 8_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nssv18317826	Remapped	Perfect	NC_000002.12:g.(?_ 13097729)_(1313113 8_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,097,729	13,131,138
nssv18302520	Submitted genomic		NC_000002.11:g.(?_ 13237854)_(1327126 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,237,854	13,271,263
nssv18308522	Submitted genomic		NC_000002.11:g.(?_ 13237854)_(1327126 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,237,854	13,271,263
nssv18310636	Submitted genomic		NC_000002.11:g.(?_ 13237854)_(1327126 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,237,854	13,271,263
nssv18313451	Submitted genomic		NC_000002.11:g.(?_ 13237854)_(1327126 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,237,854	13,271,263
nssv18313752	Submitted genomic		NC_000002.11:g.(?_ 13237854)_(1327126 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,237,854	13,271,263
nssv18317826	Submitted genomic		NC_000002.11:g.(?_ 13237854)_(1327126 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	13,237,854	13,271,263

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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