A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203442



Internal ID22352455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70181527..70218148hg38UCSC Ensembl
Outerchr2:70408659..70445280hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3836622
hg1936622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265299
SamplesHG00732
Known GenesC2orf42, TIA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203442
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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