A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052771



Internal ID19141990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:756558..767200hg38UCSC Ensembl
Innerchr12:865724..876366hg19UCSC Ensembl
Innerchr12:735985..746627hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810643
hg1910643
hg1810643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1336n100
Supporting Variantsnssv3515200
Samples
Known GenesWNK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052771
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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