A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272001



Internal ID22122613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183169694..183178246hg38UCSC Ensembl
Outerchr3:182887482..182896034hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211439
Supporting Variants
SamplesHG00512
Known GenesMCF2L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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