A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510763



Internal ID15826788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29859799..29905199hg38UCSC Ensembl
Outerchr19:30350706..30396106hg19UCSC Ensembl
Outerchr19:35042546..35087946hg18UCSC Ensembl
Outerchr19:35042546..35087946hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3845401
hg1945401
hg1845401
hg1745401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622749, nssv618962, nssv617436
SamplesCHM, NA18994, NA10860
Known Genes
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)nsv510763
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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