A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265636



Internal ID22146125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1990422..2012673hg38UCSC Ensembl
Outerchr2:1994194..2016445hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223378
Supporting Variants
SamplesHG00514
Known GenesMYT1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265636
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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