A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2027958



Internal ID17381368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:62253630..62260762hg38UCSC Ensembl
Innerchr15:62545829..62552961hg19UCSC Ensembl
Innerchr15:60333121..60340253hg18UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg387133
hg197133
hg187133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984083
Supporting Variants
SamplesHGDP00456
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)nssv2027958
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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