A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583115



Internal ID16370524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130185940..130344965hg38UCSC Ensembl
Innerchr2:130943513..131102538hg19UCSC Ensembl
Innerchr2:130659983..130819008hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38159026
hg19159026
hg18159026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7080n54
Supporting Variantsnssv1151293
SamplesHGDP00716
Known GenesCCDC115, IMP4, MZT2B, TUBA3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583115
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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