A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274152



Internal ID22263622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88166950..88182865hg38UCSC Ensembl
Outerchr4:89088102..89104017hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384567
hg194567
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211060
Supporting Variants
SamplesNA19238
Known GenesABCG2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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