A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702479



Internal ID15092445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:199889..203266hg38UCSC Ensembl
Innerchr3:241572..244949hg19UCSC Ensembl
Innerchr3:216572..219949hg18UCSC Ensembl
Innerchr3:216572..219949hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg383378
hg193378
hg183378
hg173378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526215
Supporting Variants
Samples
Known GenesCHL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702479
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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