A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1983455



Internal ID17817404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34939621..34940331hg38UCSC Ensembl
Innerchr14:35408827..35409537hg19UCSC Ensembl
Innerchr14:34478578..34479288hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976328
Supporting Variants
SamplesHGDP00927
Known GenesIGBP1P1
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)nssv1983455
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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