A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620839



Internal ID15473505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:157767224..157800513hg38UCSC Ensembl
Outerchr5:157194232..157227521hg19UCSC Ensembl
Outerchr5:157126810..157160099hg18UCSC Ensembl
Outerchr5:157126810..157160099hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383250
hg193250
hg183250
hg173250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509097
Supporting Variants
SamplesNA15510
Known GenesCLINT1
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)nssv620839
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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