A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2103856



Internal ID17439008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59576498..59579972hg38UCSC Ensembl
Innerchr17:57653859..57657333hg19UCSC Ensembl
Innerchr17:55008641..55012115hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg383475
hg193475
hg183475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960126
Supporting Variants
SamplesHGDP00665
Known GenesDHX40
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2103856
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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