A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508279



Internal ID15824306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42730640..42781252hg38UCSC Ensembl
Outerchr4:42732657..42783269hg19UCSC Ensembl
Outerchr4:42427414..42478026hg18UCSC Ensembl
Outerchr4:42573585..42624197hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3850613
hg1950613
hg1850613
hg1750613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617488
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)nsv508279
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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