A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969002



Internal ID18257544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146137674..146142381hg38UCSC Ensembl
Innerchr5:145517237..145521944hg19UCSC Ensembl
Innerchr5:145497430..145502137hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384708
hg194708
hg184708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381372, nssv2381367, nssv2381370, nssv2381371, nssv2381366, nssv2381373, nssv2381374, nssv2381375, nssv2381368, nssv2381369
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLARS
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969002
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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