A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250187



Internal ID22377465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81001651..81022986hg38UCSC Ensembl
Outerchr17:78975451..78996786hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381578
hg191578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261989, nssv14261987, nssv14261988, nssv14261986, nssv14261985
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250187
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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