A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582689



Internal ID16023412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110131531..110217046hg38UCSC Ensembl
Innerchr2:110889108..110974623hg19UCSC Ensembl
Innerchr2:110246397..110331912hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3885516
hg1985516
hg1885516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7005n54
Supporting Variantsnssv916074
Samples
Known GenesLINC00116, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582689
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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