A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619880



Internal ID15471775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42052007..42134336hg38UCSC Ensembl
Outerchr22:42448011..42530342hg19UCSC Ensembl
Outerchr22:40777957..40860286hg18UCSC Ensembl
Outerchr22:40772511..40854840hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386857
hg196857
hg186857
hg176857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508737
Supporting Variants
SamplesNA10860
Known GenesCYP2D6, FAM109B, NAGA, NDUFA6, NDUFA6-AS1, SMDT1
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)nssv619880
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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