A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520694



Internal ID15101301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30960529..30961636hg38UCSC Ensembl
Innerchr12:31113464..31114571hg19UCSC Ensembl
Innerchr12:31004731..31005838hg18UCSC Ensembl
Innerchr12:31004731..31005838hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381108
hg191108
hg181108
hg171108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697561
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520694
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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