A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507730



Internal ID15823760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102218961..102224961hg38UCSC Ensembl
Outerchr13:102871311..102877311hg19UCSC Ensembl
Outerchr13:101669312..101675312hg18UCSC Ensembl
Outerchr13:101669312..101675312hg17UCSC Ensembl
Cytoband13q33.1
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 Variantsnssv623154
SamplesNA18994
Known GenesFGF14
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)nsv507730
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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