A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704793



Internal ID15441445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117439305..117441431hg38UCSC Ensembl
Innerchr12:117877110..117879236hg19UCSC Ensembl
Innerchr12:116361493..116363619hg18UCSC Ensembl
Innerchr12:116339830..116341956hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382127
hg192127
hg182127
hg172127
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528231
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704793
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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