A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2410461



Internal ID17803218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:55938995..55941378hg38UCSC Ensembl
Innerchr6:55803793..55806176hg19UCSC Ensembl
Innerchr6:55911752..55914135hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382384
hg192384
hg182384
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969403
Supporting Variants
SamplesHGDP00778
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)nssv2410461
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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