A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012352



Internal ID18754885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179262135..179290268hg38UCSC Ensembl
Innerchr3:178979923..179008056hg19UCSC Ensembl
Innerchr3:180462617..180490750hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3828134
hg1928134
hg1828134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5000n100
Supporting Variantsnssv3614995, nssv3614994
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)nsv1012352
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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