A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1960970



Internal ID17872274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39010192..39011312hg38UCSC Ensembl
Innerchr13:39584329..39585449hg19UCSC Ensembl
Innerchr13:38482329..38483449hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977227
Supporting Variants
SamplesHGDP01284
Known GenesPROSER1
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)nssv1960970
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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