A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003061



Internal ID18745593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187085330..187417603hg38UCSC Ensembl
Innerchr2:187950057..188282330hg19UCSC Ensembl
Innerchr2:187658302..187990575hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38332274
hg19332274
hg18332274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4132n100
Supporting Variantsnssv3583276
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)nsv1003061
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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