A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264716



Internal ID22263808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196807116..196848329hg38UCSC Ensembl
Outerchr1:196776246..196817459hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382118
hg192118
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228719
Supporting Variants
SamplesNA19238
Known GenesCFHR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264716
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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