A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3510177



Internal ID18461772
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 StatusS
Merged Variantsnsv1038532
Supporting Variants
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)nssv3510177
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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