A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2090214



Internal ID17834949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30828874..30831432hg38UCSC Ensembl
Innerchr17:29155892..29158450hg19UCSC Ensembl
Innerchr17:26180018..26182576hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382559
hg192559
hg182559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960086
Supporting Variants
SamplesHGDP00998
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)nssv2090214
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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