A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212228



Internal ID22359544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182297157..182306717hg38UCSC Ensembl
Outerchr1:182266292..182275852hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264665, nssv14264666, nssv14264664, nssv14264663, nssv14265534, nssv14264662, nssv14264667
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesLOC400799
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212228
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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