A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2112401



Internal ID17817568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3017853..3026993hg38UCSC Ensembl
Innerchr18:3017851..3026991hg19UCSC Ensembl
Innerchr18:3007851..3016991hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg389141
hg199141
hg189141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962481
Supporting Variants
SamplesHGDP00927
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)nssv2112401
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