A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2101543



Internal ID17847782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:50222273..50236984hg38UCSC Ensembl
Innerchr17:48299634..48314345hg19UCSC Ensembl
Innerchr17:45654633..45669344hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3814712
hg1914712
hg1814712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960121
Supporting Variants
SamplesHGDP01029
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)nssv2101543
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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