A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508699



Internal ID15480375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235117166..235152655hg38UCSC Ensembl
Outerchr1:235280481..235315970hg19UCSC Ensembl
Outerchr1:233347104..233382593hg18UCSC Ensembl
Outerchr1:231468623..231509286hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3835490
hg1935490
hg1835490
hg1740664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619000, nssv620155, nssv622789
SamplesNA18994, NA15510, NA10860
Known GenesRBM34, SNORA14B, TOMM20
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)nsv508699
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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