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dbVar

Database of genomic structural variation

nsv4685927

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:2,353,979

Description:Single allele AND Alveolar capillary dysplasia with pulmonary venous misalignment

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: 8981 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):83,898,192-86,252,170

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4685927	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	83,898,192	86,252,170
nsv4685927	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	83,931,797	86,285,776

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16216871	deletion	Multiple	Multiple	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV; Alveolar capillary dysplasia with pulmonary venous misalignment; Congenital alveolar capillary dysplasia	Likely pathogenic	ClinVar	RCV001251455.2, VCV000975044.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16216871	Remapped	Perfect	NC_000016.10:g.838 98192_86252170del	GRCh38.p12	First Pass	NC_000016.10	Chr16	83,898,192	86,252,170
nssv16216871	Submitted genomic		NC_000016.9:g.8393 1797_86285776del	GRCh37 (hg19)		NC_000016.9	Chr16	83,931,797	86,285,776

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
nssv16216871	GRCh37: NC_000016.9:g.83931797_86285776del	deletion	inherited	ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS; ACDMPV; Alveolar capillary dysplasia with pulmonary venous misalignment; Congenital alveolar capillary dysplasia	Likely pathogenic	ClinVar	RCV001251455.2, VCV000975044.2

No genotype data were submitted for this variant

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