A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2426858



Internal ID17754329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:156658987..156678223hg38UCSC Ensembl
Innerchr6:156980121..156999357hg19UCSC Ensembl
Innerchr6:157021813..157041049hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3819237
hg1919237
hg1819237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981199
Supporting Variants
SamplesHGDP00521
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)nssv2426858
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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