A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510458



Internal ID15477956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54831330..54837330hg38UCSC Ensembl
Outerchr18:52498561..52504561hg19UCSC Ensembl
Outerchr18:50649559..50655559hg18UCSC Ensembl
Outerchr18:50649559..50655559hg17UCSC Ensembl
Cytoband18q21.2
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 Variantsnssv622279, nssv624196, nssv621455
SamplesNA15510, NA18994, NA10860
Known GenesRAB27B
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)nsv510458
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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