A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv909412



Internal ID16203368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54332656..54340192hg38UCSC Ensembl
Innerchr2:54559793..54567329hg19UCSC Ensembl
Innerchr2:54413297..54420833hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg387537
hg197537
hg187537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582013
Supporting Variants
Samples
Known GenesC2orf73
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv909412
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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