A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2126524



Internal ID17883788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:59760746..59765239hg38UCSC Ensembl
Innerchr18:57427978..57432471hg19UCSC Ensembl
Innerchr18:55578958..55583451hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg384494
hg194494
hg184494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978634
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)nssv2126524
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