A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624372



Internal ID15476259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36718976..36795194hg38UCSC Ensembl
Outerchr22:37115021..37191238hg19UCSC Ensembl
Outerchr22:35444967..35521184hg18UCSC Ensembl
Outerchr22:35439521..35515738hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3876219
hg1976218
hg1876218
hg1776218
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511077
Supporting Variants
SamplesNA18994
Known GenesIFT27
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)nssv624372
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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