A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2398971



Internal ID17458602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27807410..27808693hg38UCSC Ensembl
Innerchr6:27775188..27776471hg19UCSC Ensembl
Innerchr6:27883167..27884450hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381284
hg191284
hg181284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969366
Supporting Variants
SamplesHGDP00778
Known GenesHIST1H2AI, HIST1H2BL
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)nssv2398971
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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