A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2518330



Internal ID17787241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123812453..123816958hg38UCSC Ensembl
Innerchr8:124824693..124829198hg19UCSC Ensembl
Innerchr8:124893874..124898379hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg384506
hg194506
hg184506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971699
Supporting Variants
SamplesHGDP00665
Known GenesFAM91A1
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)nssv2518330
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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