A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262532



Internal ID22202393
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216355
Supporting Variants
SamplesHG00732
Known GenesSLC44A5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262532
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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