A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267411



Internal ID22187529
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229571
Supporting Variants
SamplesHG00731
Known GenesD2HGDH, GAL3ST2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267411
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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