A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264690



Internal ID22134624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127170718..127195777hg38UCSC Ensembl
Outerchr2:127928294..127953353hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3825060
hg1925060
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208020
Supporting Variants
SamplesHG00513
Known GenesCYP27C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264690
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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