A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510801



Internal ID15826826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17267685..17308693hg38UCSC Ensembl
Outerchr22:17748575..17789583hg19UCSC Ensembl
Outerchr22:16128575..16169583hg18UCSC Ensembl
Outerchr22:16123129..16164137hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3841009
hg1941009
hg1841009
hg1741009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617445
SamplesCHM
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)nsv510801
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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