A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964926



Internal ID18600161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116562255..116562755hg38UCSC Ensembl
Innerchr5:115897951..115898451hg19UCSC Ensembl
Innerchr5:115925850..115926350hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2373354, nssv2373358, nssv2373356, nssv2373361, nssv2373363, nssv2373355, nssv2373359, nssv2373362, nssv2373357, nssv2373360
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSEMA6A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964926
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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