A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2410784



Internal ID17836744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51407985..51410009hg38UCSC Ensembl
Innerchr6:51272783..51274807hg19UCSC Ensembl
Innerchr6:51380742..51382766hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg382025
hg192025
hg182025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970120
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)nssv2410784
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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