A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510770



Internal ID15478266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45841909..45921434hg38UCSC Ensembl
Outerchr19:46345167..46424692hg19UCSC Ensembl
Outerchr19:51037007..51116532hg18UCSC Ensembl
Outerchr19:51037007..51116532hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3879526
hg1979526
hg1879526
hg1779526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622753
SamplesNA18994
Known GenesFOXA3, IRF2BP1, MYPOP, NANOS2, SYMPK
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)nsv510770
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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