A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2076955



Internal ID17862766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15538191..15567339hg38UCSC Ensembl
Innerchr17:15441505..15470653hg19UCSC Ensembl
Innerchr17:15382230..15411378hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3829149
hg1929149
hg1829149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960418
Supporting Variants
SamplesHGDP01284
Known GenesCDRT1, TVP23C, TVP23C-CDRT4
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)nssv2076955
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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