A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584181



Internal ID16371590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202677027..202797056hg38UCSC Ensembl
Innerchr2:203541750..203661779hg19UCSC Ensembl
Innerchr2:203249995..203370024hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38120030
hg19120030
hg18120030
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7253n54
Supporting Variantsnssv930374
Samples
Known GenesFAM117B, ICA1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584181
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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