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dbVar

Database of genomic structural variation

nsv6314751

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:27,456,309

Description:GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3 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: 63904 SVs from 136 studies. See in: genome view

Remapped(Score: Good):72,439,606-99,895,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6314751	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	72,439,606	99,895,914
nsv6314751	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	72,488,757	99,614,758

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976063	copy number gain	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV002221455.2, VCV001676304.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17976063	Remapped	Good	NC_000003.12:g.(72 439606_?)_(?_99895 914)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	72,439,606	99,895,914
nssv17976063	Submitted genomic		NC_000003.11:g.(72 488757_?)_(?_99614 758)dup	GRCh37 (hg19)		NC_000003.11	Chr3	72,488,757	99,614,758

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
nssv17976063	GRCh37: NC_000003.11:g.(72488757_?)_(?_99614758)dup	copy number gain	unknown	not provided	Likely pathogenic	ClinVar	RCV002221455.2, VCV001676304.2	3

No genotype data were submitted for this variant

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