A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2404858



Internal ID17537735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33079484..33081802hg38UCSC Ensembl
Innerchr6:33047261..33049579hg19UCSC Ensembl
Innerchr6:33155239..33157557hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382319
hg192319
hg182319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970108
Supporting Variants
SamplesHGDP01307
Known GenesHLA-DPA1, HLA-DPB1
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)nssv2404858
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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