A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2106056



Internal ID17501070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:61069256..61070649hg38UCSC Ensembl
Innerchr17:59146617..59148010hg19UCSC Ensembl
Innerchr17:56501399..56502792hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381394
hg191394
hg181394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960133
Supporting Variants
SamplesHGDP01029
Known GenesBCAS3
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)nssv2106056
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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