A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582674



Internal ID16023397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110225473hg38UCSC Ensembl
Innerchr2:110857243..110983050hg19UCSC Ensembl
Innerchr2:110214532..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125808
hg19125808
hg18125808
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7001n54
Supporting Variantsnssv916059, nssv916060, nssv916057, nssv916058
Samples
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582674
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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