A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216355



Internal ID22362372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75261816..75291791hg38UCSC Ensembl
Outerchr1:75727501..75757476hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381380
hg191380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262530, nssv14262534, nssv14262533, nssv14262532, nssv14262531
SamplesNA19238, HG00731, HG00732, HG00733, HG00513
Known GenesSLC44A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216355
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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