A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582669



Internal ID16023392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110177146hg38UCSC Ensembl
Innerchr2:110857243..110934723hg19UCSC Ensembl
Innerchr2:110214532..110292012hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3877481
hg1977481
hg1877481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7003n54
Supporting Variantsnssv916047
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582669
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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