A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205965



Internal ID22354579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48553327..48560370hg38UCSC Ensembl
Outerchr2:48780466..48787509hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg387044
hg197044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264070, nssv14264068, nssv14264067, nssv14264069
SamplesNA19238, NA19239, HG00513, HG00514
Known GenesSTON1, STON1-GTF2A1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205965
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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