A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1997833



Internal ID17863720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103373163..103378008hg38UCSC Ensembl
Innerchr14:103839500..103844345hg19UCSC Ensembl
Innerchr14:102909253..102914098hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg384846
hg194846
hg184846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983859
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)nssv1997833
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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