A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2395521



Internal ID17393793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:25022970..25024663hg38UCSC Ensembl
Innerchr6:25023198..25024891hg19UCSC Ensembl
Innerchr6:25131177..25132870hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg381694
hg191694
hg181694
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981111
Supporting Variants
SamplesHGDP00456
Known GenesFAM65B
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)nssv2395521
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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