A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508294



Internal ID15824321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:84114826..84152663hg38UCSC Ensembl
Outerchr4:85035979..85073816hg19UCSC Ensembl
Outerchr4:85255003..85292840hg18UCSC Ensembl
Outerchr4:85393158..85430995hg17UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3837838
hg1937838
hg1837838
hg1737838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617492
SamplesCHM
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)nsv508294
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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