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dbVar

Database of genomic structural variation

nsv7098909

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:340,449

Description:GRCh38/hg38 15q21.1(chr15:45092835-45433283) 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: 902 SVs from 75 studies. See in: genome view

Submitted genomic45,092,835-45,433,283

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098909	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	45,092,835	45,433,283
nsv7098909	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	45,385,033	45,725,481

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792691	copy number gain	Multiple	Multiple	Anomalous pulmonary venous return; Anomalous pulmonary venous return	Uncertain significance	ClinVar	RCV003223576.1, VCV002499649.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792691	Submitted genomic		NC_000015.10:g.(?_ 45092835)_(4543328 3_?)dup	GRCh38 (hg38)		NC_000015.10	Chr15	45,092,835	45,433,283
nssv18792691	Remapped	Perfect	NC_000015.9:g.(?_4 5385033)_(45725481 _?)dup	GRCh37.p13	First Pass	NC_000015.9	Chr15	45,385,033	45,725,481

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
nssv18792691	GRCh38: NC_000015.10:g.(?_45092835)_(45433283_?)dup	copy number gain	unknown	Anomalous pulmonary venous return; Anomalous pulmonary venous return	Uncertain significance	ClinVar	RCV003223576.1, VCV002499649.1

No genotype data were submitted for this variant

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