A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968987



Internal ID18604215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:132943668..132945119hg38UCSC Ensembl
Innerchr5:132279360..132280811hg19UCSC Ensembl
Innerchr5:132307259..132308710hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381452
hg191452
hg181452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375422, nssv2375417, nssv2375416, nssv2375418, nssv2375419, nssv2375420, nssv2375421, nssv2375423, nssv2375424, nssv2375425
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesAFF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968987
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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