A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2104977



Internal ID17886906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59968085..59976338hg38UCSC Ensembl
Innerchr17:58045446..58053699hg19UCSC Ensembl
Innerchr17:55400228..55408481hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg388254
hg198254
hg188254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962348
Supporting Variants
SamplesHGDP01307
Known GenesTBC1D3P1-DHX40P1
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)nssv2104977
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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