A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969031



Internal ID18604259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181288310..181333704hg38UCSC Ensembl
Innerchr5:180715311..180760705hg19UCSC Ensembl
Innerchr5:180647917..180693311hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3845395
hg1945395
hg1845395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2391534, nssv2391536, nssv2391540, nssv2391537, nssv2391533, nssv2391542, nssv2391538, nssv2391535, nssv2391539, nssv2391541
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969031
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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