A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv920029



Internal ID15867299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130132813..130369588hg38UCSC Ensembl
Innerchr2:130890386..131127161hg19UCSC Ensembl
Innerchr2:130606856..130843631hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38236776
hg19236776
hg18236776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583113
Supporting Variants
Samples
Known GenesCCDC115, CCDC74B, IMP4, MED15P9, MZT2B, PTPN18, SMPD4, TUBA3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv920029
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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