A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2496992



Internal ID17743069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28299400..28300821hg38UCSC Ensembl
Innerchr8:28156917..28158338hg19UCSC Ensembl
Innerchr8:28212836..28214257hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381422
hg191422
hg181422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967575
Supporting Variants
SamplesHGDP00456
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)nssv2496992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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