A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2108400



Internal ID17455571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64946159..64957699hg38UCSC Ensembl
Innerchr17:62942277..62953817hg19UCSC Ensembl
Innerchr17:60372739..60384279hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3811541
hg1911541
hg1811541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960521
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)nssv2108400
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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