A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583131



Internal ID16023854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130241694..130413431hg38UCSC Ensembl
Innerchr2:130999267..131171004hg19UCSC Ensembl
Innerchr2:130715737..130887474hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38171738
hg19171738
hg18171738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7083n54
Supporting Variantsnssv920053
Samples
Known GenesCCDC115, IMP4, PTPN18
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583131
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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