A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200127



Internal ID22349622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7370070..7375051hg38UCSC Ensembl
Outerchr5:7370183..7375164hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384982
hg194982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273657
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200127
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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