A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1988954



Internal ID17859382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60969887..60972566hg38UCSC Ensembl
Innerchr14:61436605..61439284hg19UCSC Ensembl
Innerchr14:60506358..60509037hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382680
hg192680
hg182680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974345
Supporting Variants
SamplesHGDP01284
Known GenesTRMT5
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)nssv1988954
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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