A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508993



Internal ID15825019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5688142..5744093hg38UCSC Ensembl
Outerchr4:5689869..5745820hg19UCSC Ensembl
Outerchr4:5740770..5796721hg18UCSC Ensembl
Outerchr4:5807941..5863892hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384132
hg194132
hg184132
hg174132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619367, nssv623406
SamplesNA18994, NA10860
Known GenesEVC, EVC2
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)nsv508993
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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