A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584182



Internal ID16024905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202742031..202843584hg38UCSC Ensembl
Innerchr2:203606754..203708307hg19UCSC Ensembl
Innerchr2:203314999..203416552hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38101554
hg19101554
hg18101554
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151131
SamplesHGDP00912
Known GenesFAM117B, ICA1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584182
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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