A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2403934



Internal ID17533841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30008867..30010473hg38UCSC Ensembl
Innerchr6:29976644..29978250hg19UCSC Ensembl
Innerchr6:30084623..30086229hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg381607
hg191607
hg181607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981126
Supporting Variants
SamplesHGDP01307
Known GenesHLA-J, ZNRD1-AS1
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)nssv2403934
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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