A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2496795



Internal ID17742884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30114155..30124769hg38UCSC Ensembl
Innerchr8:29971671..29982285hg19UCSC Ensembl
Innerchr8:30091213..30101827hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3810615
hg1910615
hg1810615
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971634
Supporting Variants
SamplesHGDP00456
Known GenesLEPROTL1, MIR548O2
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)nssv2496795
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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