A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967100



Internal ID18602329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:185416056..185420097hg38UCSC Ensembl
Innerchr3:185133844..185137885hg19UCSC Ensembl
Innerchr3:186616538..186620579hg18UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg384042
hg194042
hg184042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2299532, nssv2299534, nssv2299528, nssv2299529, nssv2299530, nssv2299533, nssv2299531, nssv2299527, nssv2299536, nssv2299535
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAP3K13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967100
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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