Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7097001

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:5,365

Description:NC_000004.11:g.(?_5690874)_(5696238_?)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: 137 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):5,689,147-5,694,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097001	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	5,689,147	5,694,511
nsv7097001	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	5,690,874	5,696,238

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790021	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	RCV003113676.2, VCV002427347.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790021	Remapped	Perfect	NC_000004.12:g.(?_ 5689147)_(5694511_ ?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	5,689,147	5,694,511
nssv18790021	Submitted genomic		NC_000004.11:g.(?_ 5690874)_(5696238_ ?)del	GRCh37 (hg19)		NC_000004.11	Chr4	5,690,874	5,696,238

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
nssv18790021	GRCh37: NC_000004.11:g.(?_5690874)_(5696238_?)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	RCV003113676.2, VCV002427347.2

No genotype data were submitted for this variant

You are here: NCBI