A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968164



Internal ID18603392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34215545..34257813hg38UCSC Ensembl
Innerchr5:34215650..34257918hg19UCSC Ensembl
Innerchr5:34251407..34293675hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3842269
hg1942269
hg1842269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2353084, nssv2353080, nssv2353081, nssv2353079, nssv2353082, nssv2353083, nssv2353078, nssv2353085, nssv2353087, nssv2353086
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)nsv968164
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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