A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208412



Internal ID22356657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:17931393..17945727hg38UCSC Ensembl
Outerchr2:18112660..18126994hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3814335
hg1914335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264852, nssv14264853, nssv14264854
SamplesNA19238, HG00731, HG00733
Known GenesKCNS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208412
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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