A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510809



Internal ID15478305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44112122..44157091hg38UCSC Ensembl
Outerchr22:44508002..44552971hg19UCSC Ensembl
Outerchr22:42839335..42884304hg18UCSC Ensembl
Outerchr22:42832903..42877872hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3844970
hg1944970
hg1844970
hg1744970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620173
SamplesNA15510
Known GenesPARVB
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)nsv510809
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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