A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968217



Internal ID18603445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:88602924..88604122hg38UCSC Ensembl
Innerchr5:87898742..87899940hg19UCSC Ensembl
Innerchr5:87934498..87935696hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2366778, nssv2366782, nssv2366784, nssv2366779, nssv2366785, nssv2366786, nssv2366783, nssv2366780, nssv2366777, nssv2366781
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLINC00461
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968217
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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