A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3583277



Internal ID18534872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187085330..187425784hg38UCSC Ensembl
Innerchr2:187950057..188290511hg19UCSC Ensembl
Innerchr2:187658302..187998756hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38340455
hg19340455
hg18340455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000617
Supporting Variants
Samples
Known GenesCALCRL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3583277
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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