A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2110475



Internal ID17442470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:69318510..69319290hg38UCSC Ensembl
Innerchr17:67314651..67315431hg19UCSC Ensembl
Innerchr17:64826246..64827026hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38781
hg19781
hg18781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962365
Supporting Variants
SamplesHGDP00665
Known GenesABCA5
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)nssv2110475
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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