A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2317366



Internal ID17854884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:42471915..42472415hg38UCSC Ensembl
Innerchr4:42473932..42474432hg19UCSC Ensembl
Innerchr4:42168689..42169189hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980199
Supporting Variants
SamplesHGDP01029
Known GenesATP8A1, MIR548M
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)nssv2317366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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