A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329593



Internal ID17815310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102728072..102732286hg38UCSC Ensembl
Innerchr4:103649229..103653443hg19UCSC Ensembl
Innerchr4:103868273..103872486hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg384215
hg194215
hg184214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966303
Supporting Variants
SamplesHGDP00927
Known GenesMANBA
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)nssv2329593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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