A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1994992



Internal ID17887240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:84175278..84177055hg38UCSC Ensembl
Innerchr14:84641622..84643399hg19UCSC Ensembl
Innerchr14:83711375..83713152hg18UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg381778
hg191778
hg181778
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983846
Supporting Variants
SamplesHGDP01307
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)nssv1994992
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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