A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2376009



Internal ID17742516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124220268..124220945hg38UCSC Ensembl
Innerchr5:123555961..123556638hg19UCSC Ensembl
Innerchr5:123583860..123584537hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38678
hg19678
hg18678
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968241
Supporting Variants
SamplesHGDP00456
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)nssv2376009
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