A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv908032



Internal ID15855302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44278046..44322729hg38UCSC Ensembl
Innerchr2:44505185..44549868hg19UCSC Ensembl
Innerchr2:44358689..44403372hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3844684
hg1944684
hg1844684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581692
Supporting Variants
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv908032
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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