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dbVar

Database of genomic structural variation

nsv4388507

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:93,251

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: 547 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):52,294,817-52,388,067

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4388507	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	52,294,817	52,388,067
nsv4388507	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	52,688,601	52,781,851

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15635596	copy number gain	12-4855-001	SNP array	Genotyping	22
nssv15663648	copy number gain	5-1007-003	SNP array	Genotyping	19
nssv15690123	copy number gain	OCD126-896903	SNP array	Genotyping	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15635596	Remapped	Perfect	NC_000012.12:g.(?_ 52294817)_(5238806 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	52,294,817	52,388,067
nssv15663648	Remapped	Perfect	NC_000012.12:g.(?_ 52294817)_(5238806 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	52,294,817	52,388,067
nssv15690123	Remapped	Perfect	NC_000012.12:g.(?_ 52294817)_(5238806 7_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	52,294,817	52,388,067
nssv15635596	Submitted genomic		NC_000012.11:g.(?_ 52688601)_(5278185 1_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	52,688,601	52,781,851
nssv15663648	Submitted genomic		NC_000012.11:g.(?_ 52688601)_(5278185 1_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	52,688,601	52,781,851
nssv15690123	Submitted genomic		NC_000012.11:g.(?_ 52688601)_(5278185 1_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	52,688,601	52,781,851

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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