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dbVar

Database of genomic structural variation

nsv7098907

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,785,567

Description:GRCh38/hg38 17q12(chr17:36138501-37924067) AND Anomalous pulmonary venous return

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: 6183 SVs from 121 studies. See in: genome view

Submitted genomic36,138,501-37,924,067

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098907	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	36,138,501	37,924,067
nsv7098907	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	34,900,240	35,888,667

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792683	copy number gain	Multiple	Multiple	Anomalous pulmonary venous return; Anomalous pulmonary venous return	Pathogenic	ClinVar	RCV003223580.2, VCV002499653.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792683	Submitted genomic		NC_000017.11:g.(?_ 36138501)_(3792406 7_?)dup	GRCh38 (hg38)		NC_000017.11	Chr17	36,138,501	37,924,067
nssv18792683	Remapped	Pass	NC_000017.10:g.(?_ 34900240)_(3588866 7_?)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	34,900,240	35,888,667

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
nssv18792683	GRCh38: NC_000017.11:g.(?_36138501)_(37924067_?)dup	copy number gain	unknown	Anomalous pulmonary venous return; Anomalous pulmonary venous return	Pathogenic	ClinVar	RCV003223580.2, VCV002499653.1

No genotype data were submitted for this variant

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