A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229571



Internal ID22367944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241762878..241795629hg38UCSC Ensembl
Outerchr2:242702293..242735044hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267411
SamplesHG00731
Known GenesD2HGDH, GAL3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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