A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090310



Internal ID17802037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31009047..31022674hg38UCSC Ensembl
Innerchr17:29336065..29349692hg19UCSC Ensembl
Innerchr17:26360191..26373818hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3813628
hg1913628
hg1813628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960087
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2090310
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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