A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916040



Internal ID15863310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110076609..110225473hg38UCSC Ensembl
Innerchr2:110834186..110983050hg19UCSC Ensembl
Innerchr2:110191475..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38148865
hg19148865
hg18148865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582662
Supporting Variants
Samples
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916040
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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