A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1983741



Internal ID17768511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:36371370..36372688hg38UCSC Ensembl
Innerchr14:36840575..36841893hg19UCSC Ensembl
Innerchr14:35910326..35911644hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg381319
hg191319
hg181319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974327
Supporting Variants
SamplesHGDP00542
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)nssv1983741
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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