A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238557



Internal ID22374190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1115454..1254594hg38UCSC Ensembl
Outerchr17:1018694..1157888hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383132
hg193132
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260480, nssv14260485, nssv14260484, nssv14260483, nssv14260481, nssv14260482, nssv14260486
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513
Known GenesABR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238557
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer