A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2514722



Internal ID17777705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97865023..97865701hg38UCSC Ensembl
Innerchr8:98877251..98877929hg19UCSC Ensembl
Innerchr8:98946427..98947105hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38679
hg19679
hg18679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967619
Supporting Variants
SamplesHGDP00665
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)nssv2514722
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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