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dbVar

Database of genomic structural variation

nsv4377852

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:147,628

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: 1987 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):7,823,825-7,971,452

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4377852	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	7,823,825	7,971,452
nsv4377852	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	7,976,421	8,124,048

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15626370	copy number gain	1-0413-003	SNP array	Genotyping	15
nssv15632299	copy number gain	10-1104-002	SNP array	Genotyping	24
nssv15653932	copy number gain	2-1618-001	SNP array	Genotyping	18
nssv15675490	copy number gain	154725	SNP array	Genotyping	20

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15626370	Remapped	Perfect	NC_000012.12:g.(?_ 7823825)_(7971452_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,823,825	7,971,452
nssv15632299	Remapped	Perfect	NC_000012.12:g.(?_ 7823825)_(7971452_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,823,825	7,971,452
nssv15653932	Remapped	Perfect	NC_000012.12:g.(?_ 7823825)_(7971452_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,823,825	7,971,452
nssv15675490	Remapped	Perfect	NC_000012.12:g.(?_ 7823825)_(7971452_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	7,823,825	7,971,452
nssv15626370	Submitted genomic		NC_000012.11:g.(?_ 7976421)_(8124048_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	7,976,421	8,124,048
nssv15632299	Submitted genomic		NC_000012.11:g.(?_ 7976421)_(8124048_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	7,976,421	8,124,048
nssv15653932	Submitted genomic		NC_000012.11:g.(?_ 7976421)_(8124048_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	7,976,421	8,124,048
nssv15675490	Submitted genomic		NC_000012.11:g.(?_ 7976421)_(8124048_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	7,976,421	8,124,048

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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