A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584502



Internal ID16025225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219486657..219550995hg38UCSC Ensembl
Innerchr2:220351379..220415717hg19UCSC Ensembl
Innerchr2:220059623..220123961hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3864339
hg1964339
hg1864339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv932416
Samples
Known GenesASIC4, CHPF, GMPPA, LOC100996693, MIR3132, OBSL1, SPEG, TMEM198
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584502
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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