A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623849



Internal ID15475736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41889466..41962177hg38UCSC Ensembl
Outerchr22:42285470..42358181hg19UCSC Ensembl
Outerchr22:40615416..40688127hg18UCSC Ensembl
Outerchr22:40609970..40682681hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg384281
hg194281
hg184281
hg174281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508736
Supporting Variants
SamplesNA18994
Known GenesCENPM, LINC00634, MIR33A, SHISA8, SREBF2, TNFRSF13C
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)nssv623849
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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