A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968231



Internal ID18603459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111191693..111193308hg38UCSC Ensembl
Innerchr5:110527391..110529006hg19UCSC Ensembl
Innerchr5:110555290..110556905hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2371739, nssv2371737, nssv2371736, nssv2371743, nssv2371740, nssv2371735, nssv2371744, nssv2371742, nssv2371738, nssv2371741
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)nsv968231
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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