A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508484



Internal ID15824511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:136648501..136700043hg38UCSC Ensembl
Outerchr7:136333249..136384790hg19UCSC Ensembl
Outerchr7:135983789..136035330hg18UCSC Ensembl
Outerchr7:135790504..135842045hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3851543
hg1951542
hg1851542
hg1751542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618822
SamplesNA10860
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)nsv508484
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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