A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270037



Internal ID22188801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50641551..50684917hg38UCSC Ensembl
Outerchr22:51079979..51123345hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg385263
hg195263
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242638
Supporting Variants
SamplesHG00731
Known GenesSHANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270037
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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