A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701536



Internal ID15091502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93849024..93849142hg38UCSC Ensembl
Innerchr12:94242800..94242918hg19UCSC Ensembl
Innerchr12:92766931..92767049hg18UCSC Ensembl
Innerchr12:92745268..92745386hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38119
hg19119
hg18119
hg17119
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525412
Supporting Variants
Samples
Known GenesCRADD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701536
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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