A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999069



Internal ID18811919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179262135..179295493hg38UCSC Ensembl
Innerchr3:178979923..179013281hg19UCSC Ensembl
Innerchr3:180462617..180495975hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3833359
hg1933359
hg1833359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5000n100
Supporting Variantsnssv3614996, nssv3614997
Samples
Known GenesKCNMB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999069
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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