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dbVar

Database of genomic structural variation

nsv3898129

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:128,402

Description:
GRCh37/hg19 7p22.3(chr7:704572-832973) 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: 733 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):664,935-793,336

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3898129	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	664,935	793,336
nsv3898129	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	704,572	832,973

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970191	copy number loss	Multiple	Multiple	not specified	Uncertain significance	ClinVar	RCV002053663.3, VCV001527331.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970191	Remapped	Perfect	NC_000007.14:g.(?_ 664935)_(793336_?) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	664,935	793,336
nssv17970191	Submitted genomic		NC_000007.13:g.(?_ 704572)_(832973_?) del	GRCh37 (hg19)		NC_000007.13	Chr7	704,572	832,973

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
nssv17970191	GRCh37: NC_000007.13:g.(?_704572)_(832973_?)del	copy number loss	germline	not specified	Uncertain significance	ClinVar	RCV002053663.3, VCV001527331.3

No genotype data were submitted for this variant

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