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dbVar

Database of genomic structural variation

nsv7137095

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:34,348

Description:GRCh37/hg19 7p22.3(chr7:2606751-2641098) AND Polydactyly, postaxial, type a7

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: 318 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):2,567,117-2,601,464

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137095	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	2,567,117	2,601,464
nsv7137095	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	2,606,751	2,641,098

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830744	copy number loss	Multiple	Multiple	POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7; Polydactyly, postaxial, type a7	Likely pathogenic	ClinVar	RCV003236741.1, VCV002506557.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830744	Remapped	Perfect	NC_000007.14:g.(?_ 2567117)_(2601464_ ?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	2,567,117	2,601,464
nssv18830744	Submitted genomic		NC_000007.13:g.(?_ 2606751)_(2641098_ ?)del	GRCh37 (hg19)		NC_000007.13	Chr7	2,606,751	2,641,098

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
nssv18830744	GRCh37: NC_000007.13:g.(?_2606751)_(2641098_?)del	copy number loss	maternal	POLYDACTYLY, POSTAXIAL, TYPE A7; PAPA7; Polydactyly, postaxial, type a7	Likely pathogenic	ClinVar	RCV003236741.1, VCV002506557.1

No genotype data were submitted for this variant

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