A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510757



Internal ID15478253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16559921..16632309hg38UCSC Ensembl
Outerchr19:16670732..16743120hg19UCSC Ensembl
Outerchr19:16531732..16604120hg18UCSC Ensembl
Outerchr19:16531732..16604120hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3872389
hg1972389
hg1872389
hg1772389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622744
SamplesNA18994
Known GenesMED26, SLC35E1
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)nsv510757
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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