A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966327



Internal ID18601557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:147425199..147430075hg38UCSC Ensembl
Innerchr4:148346351..148351227hg19UCSC Ensembl
Innerchr4:148565801..148570677hg18UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg384877
hg194877
hg184877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2337492, nssv2337491, nssv2337488, nssv2337490, nssv2337487, nssv2337495, nssv2337486, nssv2337493, nssv2337494, nssv2337489
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966327
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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