A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620124



Internal ID15472793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54158011..54269511hg38UCSC Ensembl
Outerchr19:54661749..54773365hg19UCSC Ensembl
Outerchr19:59353561..59465177hg18UCSC Ensembl
Outerchr19:59353561..59465177hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38111501
hg19111617
hg18111617
hg17111617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv510774
Supporting Variants
SamplesNA15510
Known GenesLENG1, LILRA6, LILRB3, LILRB5, MBOAT7, RPS9, TMC4, TSEN34
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)nssv620124
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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