A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197213



Internal ID22347118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150505925..150521176hg38UCSC Ensembl
Outerchr5:149885487..149900738hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3815252
hg1915252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274703, nssv14274704
SamplesHG00732, HG00733
Known GenesNDST1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197213
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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