A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236732



Internal ID22373677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13465070..13489399hg38UCSC Ensembl
Outerchr17:13368387..13392716hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381178
hg191178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261044, nssv14261043
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236732
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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