A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2402218



Internal ID17836050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30484678..30492295hg38UCSC Ensembl
Innerchr6:30452455..30460072hg19UCSC Ensembl
Innerchr6:30560434..30568051hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg387618
hg197618
hg187618
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970103
Supporting Variants
SamplesHGDP00998
Known GenesHLA-E
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)nssv2402218
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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