A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701072



Internal ID15091038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23861135..23863248hg38UCSC Ensembl
Innerchr12:24014069..24016182hg19UCSC Ensembl
Innerchr12:23905336..23907449hg18UCSC Ensembl
Innerchr12:23905336..23907449hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382114
hg192114
hg182114
hg172114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525031
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701072
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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