A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795824



Internal ID16089780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49961546..49964271hg38UCSC Ensembl
Innerchr12:50355329..50358054hg19UCSC Ensembl
Innerchr12:48641596..48644321hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382726
hg192726
hg182726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558838
Supporting Variants
Samples
Known GenesAQP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795824
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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