A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229921



Internal ID22371613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7682237..7698656hg38UCSC Ensembl
Outerchr17:7585555..7601974hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3816420
hg1916420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260820
SamplesHG00512
Known GenesTP53, WRAP53
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229921
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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