A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1950434



Internal ID17814264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18638167..18927720hg38UCSC Ensembl
Innerchr13:19212307..19501860hg19UCSC Ensembl
Innerchr13:18110307..18399860hg18UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38289554
hg19289554
hg18289554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976074
Supporting Variants
SamplesHGDP00927
Known GenesANKRD20A9P, LINC00408, LINC00417
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)nssv1950434
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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