A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968946



Internal ID18604174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73508557..73510197hg38UCSC Ensembl
Innerchr5:72804382..72806022hg19UCSC Ensembl
Innerchr5:72840138..72841778hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381641
hg191641
hg181641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2363753, nssv2363747, nssv2363744, nssv2363750, nssv2363751, nssv2363752, nssv2363748, nssv2363749, nssv2363746, nssv2363745
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)nsv968946
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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