A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968984



Internal ID18604212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:131654996..131665362hg38UCSC Ensembl
Innerchr5:130990689..131001055hg19UCSC Ensembl
Innerchr5:131018588..131028954hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3810367
hg1910367
hg1810367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2375645, nssv2375641, nssv2375640, nssv2375646, nssv2375642, nssv2375644, nssv2375643, nssv2375647, nssv2375639, nssv2375638
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFNIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968984
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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