A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237351



Internal ID22373854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1738577..1752562hg38UCSC Ensembl
Outerchr17:1641871..1655856hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381651
hg191651
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262253, nssv14262252
SamplesHG00732, HG00733
Known GenesSERPINF2, WDR81
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237351
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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