A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916064



Internal ID15863334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110102743..110225743hg38UCSC Ensembl
Innerchr2:110860320..110983320hg19UCSC Ensembl
Innerchr2:110217609..110340609hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38123001
hg19123001
hg18123001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582678
Supporting Variants
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)nssv916064
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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