A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2024911



Internal ID17849910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49480113..49490962hg38UCSC Ensembl
Innerchr15:49772310..49783159hg19UCSC Ensembl
Innerchr15:47559602..47570451hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3810850
hg1910850
hg1810850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984069
Supporting Variants
SamplesHGDP01029
Known GenesFAM227B, FGF7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2024911
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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