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dbVar

Database of genomic structural variation

nsv7098935

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:429,756

Description:GRCh38/hg38 17q21.31(chr17:43603558-44033313) 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: 1256 SVs from 71 studies. See in: genome view

Submitted genomic43,603,558-44,033,313

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098935	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	43,603,558	44,033,313
nsv7098935	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	41,680,926	42,110,681

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792684	copy number gain	Multiple	Multiple	Anomalous pulmonary venous return; Anomalous pulmonary venous return	Uncertain significance	ClinVar	RCV003223581.1, VCV002499654.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792684	Submitted genomic		NC_000017.11:g.(?_ 43603558)_(4403331 3_?)dup	GRCh38 (hg38)		NC_000017.11	Chr17	43,603,558	44,033,313
nssv18792684	Remapped	Perfect	NC_000017.10:g.(?_ 41680926)_(4211068 1_?)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	41,680,926	42,110,681

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
nssv18792684	GRCh38: NC_000017.11:g.(?_43603558)_(44033313_?)dup	copy number gain	unknown	Anomalous pulmonary venous return; Anomalous pulmonary venous return	Uncertain significance	ClinVar	RCV003223581.1, VCV002499654.1

No genotype data were submitted for this variant

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