A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216605



Internal ID22362547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1328747..1432511hg38UCSC Ensembl
Outerchr1:1264127..1367891hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381737
hg191737
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259304, nssv14259301, nssv14259303, nssv14259302
SamplesNA19238, NA19239, HG00732, HG00513
Known GenesANKRD65, AURKAIP1, CCNL2, DVL1, GLTPD1, LOC148413, MIR6808, MRPL20, MXRA8, TAS1R3, TMEM88B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216605
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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