A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582687



Internal ID16023410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110128565..110224953hg38UCSC Ensembl
Innerchr2:110886142..110982530hg19UCSC Ensembl
Innerchr2:110243431..110339819hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3896389
hg1996389
hg1896389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7004n54
Supporting Variantsnssv1150485
SamplesNINDS_271
Known GenesLINC00116, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582687
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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