A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271946



Internal ID22120855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152293657..152316019hg38UCSC Ensembl
Outerchr1:152266133..152288495hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220705
Supporting Variants
SamplesHG00512
Known GenesFLG, FLG-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271946
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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