A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980712



Internal ID18615912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110945628..110950404hg38UCSC Ensembl
Innerchr5:110281327..110286103hg19UCSC Ensembl
Innerchr5:110309226..110314002hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg384777
hg194777
hg184777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2372421, nssv2372423, nssv2372426, nssv2372424, nssv2372422, nssv2372420, nssv2372418, nssv2372419, nssv2372425, nssv2372417
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)nsv980712
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer