A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2382915



Internal ID17846555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150019689..150023563hg38UCSC Ensembl
Innerchr5:149399252..149403126hg19UCSC Ensembl
Innerchr5:149379445..149383319hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383875
hg193875
hg183875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968262
Supporting Variants
SamplesHGDP01029
Known GenesHMGXB3
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)nssv2382915
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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