A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221992



Internal ID22366205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:1236200..1296713hg38UCSC Ensembl
Outerchr1:1171580..1232093hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383678
hg193678
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271002, nssv14271003, nssv14271004
SamplesHG00512, HG00731, HG00732
Known GenesACAP3, FAM132A, MIR6726, SCNN1D, UBE2J2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221992
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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