A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621111



Internal ID15820461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235406099..235430910hg38UCSC Ensembl
Outerchr1:235569414..235594225hg19UCSC Ensembl
Outerchr1:233636037..233660848hg18UCSC Ensembl
Outerchr1:231895455..231920266hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg383487
hg193487
hg183487
hg173487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509668
Supporting Variants
SamplesNA15510
Known GenesTBCE
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)nssv621111
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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