A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509023



Internal ID15825049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168480945..168496695hg38UCSC Ensembl
Outerchr4:169402096..169417846hg19UCSC Ensembl
Outerchr4:169638671..169654421hg18UCSC Ensembl
Outerchr4:169776826..169792576hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383245
hg193245
hg183245
hg173245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619387
SamplesNA10860
Known Genes
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)nsv509023
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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