A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2508945



Internal ID17742507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75373986..75378533hg38UCSC Ensembl
Innerchr8:76286221..76290768hg19UCSC Ensembl
Innerchr8:76448776..76453323hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg384548
hg194548
hg184548
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971324
Supporting Variants
SamplesHGDP00456
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)nssv2508945
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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