A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2404665



Internal ID17751455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32758830..32759503hg38UCSC Ensembl
Innerchr6:32726607..32727280hg19UCSC Ensembl
Innerchr6:32834585..32835258hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38674
hg19674
hg18674
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970107
Supporting Variants
SamplesHGDP00521
Known GenesHLA-DQB2
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)nssv2404665
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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