A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620155



Internal ID15472824
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 StatusS
Merged Variantsnsv508699
Supporting Variants
SamplesNA15510
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)nssv620155
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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