A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1984885



Internal ID17803979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49600216..49601722hg38UCSC Ensembl
Innerchr14:50066934..50068440hg19UCSC Ensembl
Innerchr14:49136684..49138190hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381507
hg191507
hg181507
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977465
Supporting Variants
SamplesHGDP00778
Known GenesLRR1
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)nssv1984885
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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