A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2024820



Internal ID17750374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:56071534..56073689hg38UCSC Ensembl
Innerchr15:56363732..56365887hg19UCSC Ensembl
Innerchr15:54151024..54153179hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg382156
hg192156
hg182156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977717
Supporting Variants
SamplesHGDP00521
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)nssv2024820
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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