A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581194



Internal ID16368603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24490947..24492157hg38UCSC Ensembl
Innerchr2:24713816..24715026hg19UCSC Ensembl
Innerchr2:24567320..24568530hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381211
hg191211
hg181211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6734n54
Supporting Variantsnssv904498, nssv904497
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581194
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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