A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582671



Internal ID16023394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110205734hg38UCSC Ensembl
Innerchr2:110857243..110963311hg19UCSC Ensembl
Innerchr2:110214532..110320600hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38106069
hg19106069
hg18106069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7002n54
Supporting Variantsnssv916050
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582671
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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