A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2400059



Internal ID17848095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27863826..27865796hg38UCSC Ensembl
Innerchr6:27831604..27833574hg19UCSC Ensembl
Innerchr6:27939583..27941553hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381971
hg191971
hg181971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965699
Supporting Variants
SamplesHGDP01029
Known GenesHIST1H2AL
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)nssv2400059
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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