A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2384128



Internal ID17751595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154729260..154732695hg38UCSC Ensembl
Innerchr5:154108820..154112255hg19UCSC Ensembl
Innerchr5:154089013..154092448hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg383436
hg193436
hg183436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964965
Supporting Variants
SamplesHGDP00521
Known GenesLARP1
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)nssv2384128
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