A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2415744



Internal ID17838650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:86970446..86972126hg38UCSC Ensembl
Innerchr6:87680164..87681844hg19UCSC Ensembl
Innerchr6:87736883..87738563hg18UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965742
Supporting Variants
SamplesHGDP00998
Known GenesHTR1E
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)nssv2415744
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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