A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2084341



Internal ID17419315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20966695..20969465hg38UCSC Ensembl
Innerchr17:20870008..20872778hg19UCSC Ensembl
Innerchr17:20810600..20813370hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382771
hg192771
hg182771
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960441
Supporting Variants
SamplesHGDP00542
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)nssv2084341
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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