A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2281039



Internal ID17470102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:45882940..45883940hg38UCSC Ensembl
Innerchr3:45924432..45925432hg19UCSC Ensembl
Innerchr3:45899436..45900436hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979827
Supporting Variants
SamplesHGDP00927
Known GenesLZTFL1
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)nssv2281039
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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