A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2022057



Internal ID17818652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45208883..45222929hg38UCSC Ensembl
Innerchr15:45501081..45515127hg19UCSC Ensembl
Innerchr15:43288373..43302419hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3814047
hg1914047
hg1814047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977712
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2022057
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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