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dbVar

Database of genomic structural variation

nsv7096735

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:13,627

Description:NC_000004.11:g.(?_5564565)_(5578191_?)del AND multiple conditions

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: 140 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):5,562,838-5,576,464

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096735	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	5,562,838	5,576,464
nsv7096735	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	5,564,565	5,578,191

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790020	deletion	Multiple	Multiple	Acrofacial dysostosis, Weyers type; Chondroectodermal dysplasia; Curry-Hall syndrome; ELLIS-VAN CREVELD SYNDROME; EVC; Ellis Van Creveld syndrome; See individual phenotypes in OMIM allelic variants; WEYERS ACROFACIAL DYSOSTOSIS; WAD	Pathogenic	ClinVar	RCV003113675.2, VCV002427346.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790020	Remapped	Perfect	NC_000004.12:g.(?_ 5562838)_(5576464_ ?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	5,562,838	5,576,464
nssv18790020	Submitted genomic		NC_000004.11:g.(?_ 5564565)_(5578191_ ?)del	GRCh37 (hg19)		NC_000004.11	Chr4	5,564,565	5,578,191

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
nssv18790020	GRCh37: NC_000004.11:g.(?_5564565)_(5578191_?)del	deletion	germline	Acrofacial dysostosis, Weyers type; Chondroectodermal dysplasia; Curry-Hall syndrome; ELLIS-VAN CREVELD SYNDROME; EVC; Ellis Van Creveld syndrome; See individual phenotypes in OMIM allelic variants; WEYERS ACROFACIAL DYSOSTOSIS; WAD	Pathogenic	ClinVar	RCV003113675.2, VCV002427346.2

No genotype data were submitted for this variant

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