A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218092



Internal ID22363554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:233159333..233189056hg38UCSC Ensembl
Outerchr2:234067979..234097702hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266690, nssv14266692, nssv14266689, nssv14266693, nssv14266691, nssv14266687, nssv14266688, nssv14266686
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesINPP5D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218092
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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