A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980680



Internal ID18615880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71234748..71406324hg38UCSC Ensembl
Innerchr5:70530575..70702151hg19UCSC Ensembl
Innerchr5:70566331..70737907hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38171577
hg19171577
hg18171577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2363431, nssv2363428, nssv2363434, nssv2363432, nssv2363433, nssv2363430, nssv2363426, nssv2363429, nssv2363427, nssv2363435
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGUSBP9, PMCHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980680
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