A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264602



Internal ID22262467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160075084..160077144hg38UCSC Ensembl
Outerchr1:160044874..160046934hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211700
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264602
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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