A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2381375



Internal ID17463209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146137674..146142381hg38UCSC Ensembl
Innerchr5:145517237..145521944hg19UCSC Ensembl
Innerchr5:145497430..145502137hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg384708
hg194708
hg184708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969002
Supporting Variants
SamplesHGDP00927
Known GenesLARS
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)nssv2381375
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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