A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507760



Internal ID8790704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73199145..73205145hg38UCSC Ensembl
Outerchr14:73665853..73671853hg19UCSC Ensembl
Outerchr14:72735606..72741606hg18UCSC Ensembl
Outerchr14:72735606..72741606hg17UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620570
SamplesNA15510
Known GenesPSEN1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv507760
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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