A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001147



Internal ID19090364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:34013902..34092762hg38UCSC Ensembl
Innerchr2:34238969..34317829hg19UCSC Ensembl
Innerchr2:34092473..34171333hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3878861
hg1978861
hg1878861
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3756n100
Supporting Variantsnssv3580890, nssv3580887, nssv3580888, nssv3580889
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001147
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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