A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618143



Internal ID15469262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38627252..38684460hg38UCSC Ensembl
Outerchr22:39023257..39080465hg19UCSC Ensembl
Outerchr22:37353203..37410411hg18UCSC Ensembl
Outerchr22:37347757..37404965hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg386078
hg196078
hg186078
hg176078
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508733
Supporting Variants
SamplesCHM
Known GenesCBY1, FAM227A, TOMM22
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)nssv618143
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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