A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2364618



Internal ID17852941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78643374..78644982hg38UCSC Ensembl
Innerchr5:77939197..77940805hg19UCSC Ensembl
Innerchr5:77974953..77976561hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381609
hg191609
hg181609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968954
Supporting Variants
SamplesHGDP01029
Known GenesLHFPL2
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)nssv2364618
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