A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2396428



Internal ID17784361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26199671..26204165hg38UCSC Ensembl
Innerchr6:26199899..26204393hg19UCSC Ensembl
Innerchr6:26307878..26312372hg18UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg384495
hg194495
hg184495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969356
Supporting Variants
SamplesHGDP00665
Known GenesHIST1H2BF
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)nssv2396428
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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