A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2404768



Internal ID17851073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32876751..32883068hg38UCSC Ensembl
Innerchr6:32844528..32850845hg19UCSC Ensembl
Innerchr6:32952506..32958823hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386318
hg196318
hg186318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969385
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2404768
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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