A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1979444



Internal ID17879940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24034645..24054770hg38UCSC Ensembl
Innerchr14:24503854..24523979hg19UCSC Ensembl
Innerchr14:23573694..23593819hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3820126
hg1920126
hg1820126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983808
Supporting Variants
SamplesHGDP01307
Known GenesDHRS4L1, LRRC16B
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)nssv1979444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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