A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509097



Internal ID15476595
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
hg383072
hg193072
hg183072
hg173072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620839, nssv619427
SamplesNA15510, NA10860
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)nsv509097
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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