A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925283



Internal ID16219239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169727686..169819255hg38UCSC Ensembl
Innerchr2:170584196..170675765hg19UCSC Ensembl
Innerchr2:170292442..170384011hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3891570
hg1991570
hg1891570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583606
Supporting Variants
Samples
Known GenesKLHL23, METTL5, PHOSPHO2-KLHL23, SSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv925283
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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