A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2078257



Internal ID17506668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15505265..15508445hg38UCSC Ensembl
Innerchr17:15408579..15411759hg19UCSC Ensembl
Innerchr17:15349304..15352484hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383181
hg193181
hg183181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960057
Supporting Variants
SamplesHGDP01029
Known GenesTVP23C, TVP23C-CDRT4
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)nssv2078257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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