A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2499192



Internal ID17740083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:31217645..31220990hg38UCSC Ensembl
Innerchr8:31075161..31078506hg19UCSC Ensembl
Innerchr8:31194703..31198048hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383346
hg193346
hg183346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967579
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)nssv2499192
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer