A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244124



Internal ID22375772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43402261..43419113hg38UCSC Ensembl
Outerchr17:41479629..41496481hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261602, nssv14261603
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244124
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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