A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2371836



Internal ID17874190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:111571413..111572247hg38UCSC Ensembl
Innerchr5:110907110..110907944hg19UCSC Ensembl
Innerchr5:110935009..110935843hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38835
hg19835
hg18835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968232
Supporting Variants
SamplesHGDP01284
Known GenesSTARD4-AS1
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)nssv2371836
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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