A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1989049



Internal ID17798285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:62805451..62811073hg38UCSC Ensembl
Innerchr14:63272169..63277791hg19UCSC Ensembl
Innerchr14:62341922..62347544hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg385623
hg195623
hg185623
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983834
Supporting Variants
SamplesHGDP00778
Known GenesKCNH5
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)nssv1989049
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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