A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236751



Internal ID22373682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75430894..75456440hg38UCSC Ensembl
Outerchr17:73426975..73452521hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381337
hg191337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261414, nssv14261412, nssv14261411, nssv14261415, nssv14261413, nssv14261417, nssv14261416, nssv14261419, nssv14261418
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236751
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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