A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980662



Internal ID18615862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70078607..70095750hg38UCSC Ensembl
Innerchr5:69374434..69391577hg19UCSC Ensembl
Innerchr5:69410190..69427333hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817144
hg1917144
hg1817144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2361471, nssv2361474, nssv2361473, nssv2361477, nssv2361469, nssv2361472, nssv2361475, nssv2361476, nssv2361470, nssv2361478
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSMA4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980662
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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