A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978174



Internal ID18266693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87891800..87894554hg38UCSC Ensembl
Innerchr16:87925406..87928160hg19UCSC Ensembl
Innerchr16:86482907..86485661hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg382755
hg192755
hg182755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2069034, nssv2069037, nssv2069033, nssv2069038, nssv2069035, nssv2069031, nssv2069039, nssv2069040, nssv2069032, nssv2069036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCA5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978174
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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