A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2335215



Internal ID17773957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123024438..123026347hg38UCSC Ensembl
Innerchr4:123945593..123947502hg19UCSC Ensembl
Innerchr4:124165043..124166952hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg381910
hg191910
hg181910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964093
Supporting Variants
SamplesHGDP00542
Known GenesSPATA5
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)nssv2335215
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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