A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508986



Internal ID15476484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:527899..756994hg38UCSC Ensembl
Outerchr4:521688..750782hg19UCSC Ensembl
Outerchr4:511688..740782hg18UCSC Ensembl
Outerchr4:511688..740612hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg386044
hg196044
hg186044
hg176044
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619357, nssv623405, nssv619358, nssv619356, nssv620783
SamplesNA18994, NA15510, NA10860
Known GenesATP5I, MFSD7, MYL5, PCGF3, PDE6B, PIGG
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)nsv508986
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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