A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697017



Internal ID15086983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22914368..23536367hg38UCSC Ensembl
Innerchr12:23067302..23689301hg19UCSC Ensembl
Innerchr12:22958569..23580568hg18UCSC Ensembl
Innerchr12:22958569..23580568hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38622000
hg19622000
hg18622000
hg17622000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519732
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697017
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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