A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035947



Internal ID19125166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:756558..767068hg38UCSC Ensembl
Innerchr12:865724..876234hg19UCSC Ensembl
Innerchr12:735985..746495hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810511
hg1910511
hg1810511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1336n100
Supporting Variantsnssv3710817, nssv3710816, nssv3710815, nssv3519665
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)nsv1035947
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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