A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264417



Internal ID22120538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241804320..241850479hg38UCSC Ensembl
Outerchr2:242743735..242792631hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3846160
hg1948897
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203863
Supporting Variants
SamplesHG00512
Known GenesNEU4, PDCD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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