A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2078337



Internal ID17787086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15567339..15590834hg38UCSC Ensembl
Innerchr17:15470653..15494148hg19UCSC Ensembl
Innerchr17:15411378..15434873hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3823496
hg1923496
hg1823496
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960419
Supporting Variants
SamplesHGDP00665
Known GenesCDRT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2078337
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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