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dbVar

Database of genomic structural variation

nsv4453283

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:78

Description:Single allele AND not specified

Links to Other Resources

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: 89 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):129,774,692-129,774,769

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4453283	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	129,774,692	129,774,769
nsv4453283	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	129,414,532	129,414,609

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15776844	deletion	Multiple	Multiple	not specified	Uncertain significance	ClinVar	RCV000825957.4, VCV000667263.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776844	Remapped	Perfect	NC_000007.14:g.(?_ 129774692)_(129774 769_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	129,774,692	129,774,769
nssv15776844	Submitted genomic		NC_000007.13:g.(?_ 129414532)_(129414 609_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	129,414,532	129,414,609

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15776844	GRCh37: NC_000007.13:g.(?_129414532)_(129414609_?)del	deletion	germline	not specified	Uncertain significance	ClinVar	RCV000825957.4, VCV000667263.4

No genotype data were submitted for this variant

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