A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619404



Internal ID15471299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1354277..1455603hg38UCSC Ensembl
Outerchr5:1354392..1455718hg19UCSC Ensembl
Outerchr5:1407392..1508718hg18UCSC Ensembl
Outerchr5:1407392..1508718hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385536
hg195536
hg185536
hg175536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509045
Supporting Variants
SamplesNA10860
Known GenesSLC6A3
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)nssv619404
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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