A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582008



Internal ID16369417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53460592..53479765hg38UCSC Ensembl
Innerchr2:53687730..53706903hg19UCSC Ensembl
Innerchr2:53541234..53560407hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3819174
hg1919174
hg1819174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150723
Samples1782681495_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582008
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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