A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508057



Internal ID15824084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:194267336..194273336hg38UCSC Ensembl
Outerchr1:194236466..194242466hg19UCSC Ensembl
Outerchr1:192503089..192509089hg18UCSC Ensembl
Outerchr1:190968123..190974123hg17UCSC Ensembl
Cytoband1q31.3
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 Variantsnssv624229, nssv622303, nssv618518
SamplesCHM, NA18994, NA10860
Known Genes
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)nsv508057
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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