A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2504962



Internal ID17884707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60387660..60388859hg38UCSC Ensembl
Innerchr8:61300219..61301418hg19UCSC Ensembl
Innerchr8:61462773..61463972hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381200
hg191200
hg181200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981945
Supporting Variants
SamplesHGDP01307
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)nssv2504962
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