A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1983259



Internal ID17861764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:39107847..39110131hg38UCSC Ensembl
Innerchr14:39577051..39579335hg19UCSC Ensembl
Innerchr14:38646802..38649086hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382285
hg192285
hg182285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983817
Supporting Variants
SamplesHGDP01284
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)nssv1983259
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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