A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192064



Internal ID22342695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126553494..126591856hg38UCSC Ensembl
Outerchr2:127311071..127349433hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3838363
hg1938363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4792n152
Supporting Variantsnssv14265244
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192064
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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