A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623457



Internal ID15475344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141806786..141884647hg38UCSC Ensembl
Outerchr5:141186353..141264212hg19UCSC Ensembl
Outerchr5:141166537..141244396hg18UCSC Ensembl
Outerchr5:141166537..141244396hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383363
hg193363
hg183363
hg173363
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509093
Supporting Variants
SamplesNA18994
Known GenesPCDH1
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)nssv623457
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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