A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622752



Internal ID15821325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41452376..41542803hg38UCSC Ensembl
Outerchr19:41958281..42049165hg19UCSC Ensembl
Outerchr19:46650121..46741005hg18UCSC Ensembl
Outerchr19:46650121..46741005hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3890428
hg1990885
hg1890885
hg1790885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510767
Supporting Variants
SamplesNA18994
Known GenesLOC100505495
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)nssv622752
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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