A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693398



Internal ID15083364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122850980..122889039hg38UCSC Ensembl
Innerchr12:123335527..123373586hg19UCSC Ensembl
Innerchr12:121901480..121939539hg18UCSC Ensembl
Innerchr12:121860407..121898466hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3838060
hg1938060
hg1838060
hg1738060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517200
Supporting Variants
Samples
Known GenesHIP1R, VPS37B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693398
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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