A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968223



Internal ID18603451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99391427..99435374hg38UCSC Ensembl
Innerchr5:98727131..98771078hg19UCSC Ensembl
Innerchr5:98755030..98798977hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3843948
hg1943948
hg1843948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2370203, nssv2370208, nssv2370202, nssv2370204, nssv2370209, nssv2370211, nssv2370207, nssv2370210, nssv2370206, nssv2370205
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968223
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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