A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970115



Internal ID18605339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43318561..43328257hg38UCSC Ensembl
Innerchr6:43286299..43295995hg19UCSC Ensembl
Innerchr6:43394277..43403973hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg389697
hg199697
hg189697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2408241, nssv2408247, nssv2408244, nssv2408240, nssv2408239, nssv2408245, nssv2408242, nssv2408248, nssv2408246, nssv2408243
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)nsv970115
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