A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592643



Internal ID16033366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178832458..178835968hg38UCSC Ensembl
Innerchr3:178550246..178553756hg19UCSC Ensembl
Innerchr3:180032940..180036450hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg383511
hg193511
hg183511
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv982413, nssv982414
Samples
Known GenesKCNMB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592643
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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