A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204950



Internal ID22353722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133899519..133904945hg38UCSC Ensembl
Outerchr5:133235210..133240636hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg385427
hg195427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272685
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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