A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224041



Internal ID22367605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12440246..12464025hg38UCSC Ensembl
Outerchr17:12343563..12367342hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3823780
hg1923780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260520, nssv14260522, nssv14260028, nssv14260517, nssv14260519, nssv14260521, nssv14260518
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224041
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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