A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2399959



Internal ID17526059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:27838096..27839734hg38UCSC Ensembl
Innerchr6:27805874..27807512hg19UCSC Ensembl
Innerchr6:27913853..27915491hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381639
hg191639
hg181639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969367
Supporting Variants
SamplesHGDP01284
Known GenesHIST1H2AK, HIST1H2BN
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)nssv2399959
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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