A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271548



Internal ID22314454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129401722..129413124hg38UCSC Ensembl
Outerchr3:129120565..129131967hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218330
Supporting Variants
SamplesNA19240
Known GenesEFCAB12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271548
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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