A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967093



Internal ID18255636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179237273..179243763hg38UCSC Ensembl
Innerchr3:178955061..178961551hg19UCSC Ensembl
Innerchr3:180437755..180444245hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg386491
hg196491
hg186491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2304337, nssv2304344, nssv2304338, nssv2304336, nssv2304339, nssv2304342, nssv2304341, nssv2304335, nssv2304343, nssv2304340
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKCNMB3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967093
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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