A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2499508



Internal ID17806318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:36987173..36988414hg38UCSC Ensembl
Innerchr8:36844691..36845932hg19UCSC Ensembl
Innerchr8:36963849..36965090hg18UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg381242
hg191242
hg181242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971642
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)nssv2499508
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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