A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2425307



Internal ID17840545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:137701975..137707085hg38UCSC Ensembl
Innerchr6:138023112..138028222hg19UCSC Ensembl
Innerchr6:138064805..138069915hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg385111
hg195111
hg185111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965774
Supporting Variants
SamplesHGDP00998
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)nssv2425307
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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