A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2102619



Internal ID17882866
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 StatusS
Merged Variantsnsv960124
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2102619
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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