A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275072



Internal ID22141035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152210408..152215296hg38UCSC Ensembl
Outerchr1:152182884..152187772hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381088
hg191088
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229356
Supporting Variants
SamplesHG00513
Known GenesHRNR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275072
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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