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dbVar

Database of genomic structural variation

nsv4452353

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:1,976,865

Description:Single allele AND not provided

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: 6540 SVs from 112 studies. See in: genome view

Remapped(Score: Perfect):148,200,613-150,177,477

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4452353	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	148,200,613	150,177,477
nsv4452353	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	147,897,705	149,874,566

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15771830	duplication	Multiple	Multiple	not provided	not provided	ClinVar	RCV000844986.1, VCV000684492.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15771830	Remapped	Perfect	NC_000007.14:g.(?_ 148200613)_(150177 477_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	148,200,613	150,177,477
nssv15771830	Submitted genomic		NC_000007.13:g.(?_ 147897705)_(149874 566_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	147,897,705	149,874,566

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	Copy number
nssv15771830	GRCh37: NC_000007.13:g.(?_147897705)_(149874566_?)dup	duplication	de novo	not provided	not provided	ClinVar	RCV000844986.1, VCV000684492.1	3

No genotype data were submitted for this variant

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