A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508354



Internal ID15824381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:45335896..45362717hg38UCSC Ensembl
Outerchr5:45335998..45362819hg19UCSC Ensembl
Outerchr5:45371755..45398576hg18UCSC Ensembl
Outerchr5:45371755..45398576hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3826822
hg1926822
hg1826822
hg1726822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619954
SamplesNA15510
Known GenesHCN1
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)nsv508354
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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