A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv912172



Internal ID16206128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115461..71120629hg38UCSC Ensembl
Innerchr2:71342591..71347759hg19UCSC Ensembl
Innerchr2:71196099..71201267hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385169
hg195169
hg185169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582196
Supporting Variants
Samples
Known GenesMCEE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv912172
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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