A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583119



Internal ID16023842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130195449..130377276hg38UCSC Ensembl
Innerchr2:130953022..131134849hg19UCSC Ensembl
Innerchr2:130669492..130851319hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38181828
hg19181828
hg18181828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7079n54
Supporting Variantsnssv920032
Samples
Known GenesCCDC115, IMP4, PTPN18, TUBA3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583119
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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