A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510795



Internal ID15478291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32272735..32382310hg38UCSC Ensembl
Outerchr21:33645046..33754619hg19UCSC Ensembl
Outerchr21:32566917..32676490hg18UCSC Ensembl
Outerchr21:32566917..32676490hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38109576
hg19109574
hg18109574
hg17109574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619016
SamplesNA10860
Known GenesMIS18A, MRAP, SNORA80, URB1
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)nsv510795
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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