A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235011



Internal ID22373176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:808083..847084hg38UCSC Ensembl
Outerchr17:711323..750324hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg382022
hg192022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260468, nssv14260469
SamplesNA19238, HG00733
Known GenesNXN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235011
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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