A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988514



Internal ID17755132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:58520128..58522571hg38UCSC Ensembl
Innerchr14:58986846..58989289hg19UCSC Ensembl
Innerchr14:58056599..58059042hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382444
hg192444
hg182444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983831
Supporting Variants
SamplesHGDP00521
Known GenesKIAA0586
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)nssv1988514
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