A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960124



Internal ID18595377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:51501504..51505242hg38UCSC Ensembl
Innerchr17:49578865..49582603hg19UCSC Ensembl
Innerchr17:46933864..46937602hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383739
hg193739
hg183739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2102619, nssv2102624, nssv2102628, nssv2102626, nssv2102623, nssv2102621, nssv2102620, nssv2102627, nssv2102625, nssv2102622
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)nsv960124
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