A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521723



Internal ID8415998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67408221..67543787hg38UCSC Ensembl
Innerchr11:67175692..67311258hg19UCSC Ensembl
Innerchr11:66932268..67067834hg18UCSC Ensembl
Innerchr11:66932268..67067834hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38135567
hg19135567
hg18135567
hg17135567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694483
Samples
Known GenesAIP, CABP2, CABP4, CARNS1, CDK2AP2, CORO1B, GPR152, MIR6752, PITPNM1, PTPRCAP, RPS6KB2, TBC1D10C, TMEM134
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521723
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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