A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038532



Internal ID18781063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:754667..767068hg38UCSC Ensembl
Innerchr12:863833..876234hg19UCSC Ensembl
Innerchr12:734094..746495hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812402
hg1912402
hg1812402
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510177
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)nsv1038532
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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