A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275221



Internal ID22198424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:205800493..205806286hg38UCSC Ensembl
Outerchr1:205769621..205775414hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224065
Supporting Variants
SamplesHG00732
Known GenesSLC41A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275221
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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