A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266112



Internal ID22135088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:216774862..216783562hg38UCSC Ensembl
Outerchr1:216948204..216956904hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217068
Supporting Variants
SamplesHG00513
Known GenesESRRG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266112
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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