A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916075



Internal ID15863345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110131531..110228972hg38UCSC Ensembl
Innerchr2:110889108..110986549hg19UCSC Ensembl
Innerchr2:110246397..110343838hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3897442
hg1997442
hg1897442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582690
Supporting Variants
Samples
Known GenesLINC00116, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916075
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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