A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795822



Internal ID15743092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49955982..50073986hg38UCSC Ensembl
Innerchr12:50349765..50467769hg19UCSC Ensembl
Innerchr12:48636032..48754036hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38118005
hg19118005
hg18118005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558837
Supporting Variants
Samples
Known GenesAQP2, AQP5, AQP6, ASIC1, RACGAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795822
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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