A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2025084



Internal ID17833649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50464529..50469672hg38UCSC Ensembl
Innerchr15:50756726..50761869hg19UCSC Ensembl
Innerchr15:48544018..48549161hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg385144
hg195144
hg185144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974576
Supporting Variants
SamplesHGDP00998
Known GenesUSP8
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)nssv2025084
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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