A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2316097



Internal ID17786096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34447523..34455908hg38UCSC Ensembl
Innerchr4:34449145..34457530hg19UCSC Ensembl
Innerchr4:34125540..34133925hg18UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg388386
hg198386
hg188386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980192
Supporting Variants
SamplesHGDP00665
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)nssv2316097
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