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dbVar

Database of genomic structural variation

nsv4381578

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:159,641

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: 565 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):128,853,173-129,012,813

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4381578	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	128,853,173	129,012,813
nsv4381578	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	129,774,328	129,933,968

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15651725	copy number gain	2-1547-003	SNP array	Genotyping	13
nssv15670455	copy number gain	7-0173-003	SNP array	Genotyping	31

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15651725	Remapped	Perfect	NC_000004.12:g.(?_ 128853173)_(129012 813_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	128,853,173	129,012,813
nssv15670455	Remapped	Perfect	NC_000004.12:g.(?_ 128853173)_(129012 813_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	128,853,173	129,012,813
nssv15651725	Submitted genomic		NC_000004.11:g.(?_ 129774328)_(129933 968_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	129,774,328	129,933,968
nssv15670455	Submitted genomic		NC_000004.11:g.(?_ 129774328)_(129933 968_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	129,774,328	129,933,968

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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