A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584180



Internal ID16024903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202677027..202770882hg38UCSC Ensembl
Innerchr2:203541750..203635605hg19UCSC Ensembl
Innerchr2:203249995..203343850hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3893856
hg1993856
hg1893856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7253n54
Supporting Variantsnssv1151130
SamplesNINDS_16
Known GenesFAM117B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584180
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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