A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703720



Internal ID15440372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128454445..128470273hg38UCSC Ensembl
Innerchr12:128938990..128954818hg19UCSC Ensembl
Innerchr12:127504943..127520771hg18UCSC Ensembl
Innerchr12:127463870..127479698hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3815829
hg1915829
hg1815829
hg1715829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527302
Supporting Variants
Samples
Known GenesTMEM132C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703720
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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