A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192838



Internal ID22343369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241759717..241795273hg38UCSC Ensembl
Outerchr2:242699132..242734688hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3835557
hg1935557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265281
SamplesHG00731
Known GenesD2HGDH, GAL3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192838
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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