A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv982414



Internal ID15929684
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv592643
Supporting Variants
Samples
Known GenesKCNMB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv982414
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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