A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509806



Internal ID15477304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17806210..17883749hg38UCSC Ensembl
Outerchr22:18288976..18366515hg19UCSC Ensembl
Outerchr22:16668976..16746515hg18UCSC Ensembl
Outerchr22:16663530..16741069hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384687
hg194687
hg184687
hg174687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623842
SamplesNA18994
Known GenesMICAL3
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)nsv509806
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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