A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1994032



Internal ID17505586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:89156118..89159980hg38UCSC Ensembl
Innerchr14:89622462..89626324hg19UCSC Ensembl
Innerchr14:88692215..88696077hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg383863
hg193863
hg183863
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976363
Supporting Variants
SamplesHGDP01029
Known GenesFOXN3
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)nssv1994032
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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