A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980676



Internal ID18615876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70798947..70901540hg38UCSC Ensembl
Innerchr5:70094774..70197367hg19UCSC Ensembl
Innerchr5:70130530..70233123hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38102594
hg19102594
hg18102594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2363275, nssv2362762, nssv2362767, nssv2362761, nssv2362765, nssv2362764, nssv2362763, nssv2362766, nssv2362768, nssv2362769
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSERF1A, SERF1B, SMA4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980676
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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