A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1998422



Internal ID17837325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102661647..102663914hg38UCSC Ensembl
Innerchr14:103127984..103130251hg19UCSC Ensembl
Innerchr14:102197737..102200004hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382268
hg192268
hg182268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974373
Supporting Variants
SamplesHGDP00998
Known GenesRCOR1
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)nssv1998422
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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