A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916068



Internal ID15863338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110114088..110200752hg38UCSC Ensembl
Innerchr2:110871665..110958329hg19UCSC Ensembl
Innerchr2:110228954..110315618hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3886665
hg1986665
hg1886665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582682
Supporting Variants
Samples
Known GenesMALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916068
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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