A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968232



Internal ID18603460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111571413..111572247hg38UCSC Ensembl
Innerchr5:110907110..110907944hg19UCSC Ensembl
Innerchr5:110935009..110935843hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38835
hg19835
hg18835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2371841, nssv2371833, nssv2371832, nssv2371839, nssv2371838, nssv2371836, nssv2371834, nssv2371840, nssv2371837, nssv2371835
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTARD4-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968232
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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