A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510765



Internal ID15478261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35217323..35399766hg38UCSC Ensembl
Outerchr19:35708226..35890668hg19UCSC Ensembl
Outerchr19:40400066..40582508hg18UCSC Ensembl
Outerchr19:40400066..40582508hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38182444
hg19182443
hg18182443
hg17182443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620119
SamplesNA15510
Known GenesCD22, FAM187B, FFAR1, FFAR3, HAMP, LSR, MAG, MIR5196, USF2
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)nsv510765
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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