A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622740



Internal ID15474627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5121816..5246204hg38UCSC Ensembl
Outerchr19:5121827..5246215hg19UCSC Ensembl
Outerchr19:5072827..5197215hg18UCSC Ensembl
Outerchr19:5072827..5197215hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38124389
hg19124389
hg18124389
hg17124389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510750
Supporting Variants
SamplesNA18994
Known GenesKDM4B, PTPRS
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)nssv622740
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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