A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221286



Internal ID22365721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7492360..7520749hg38UCSC Ensembl
Outerchr1:7552420..7580809hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381456
hg191456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259844, nssv14259849, nssv14259845, nssv14259848, nssv14259852, nssv14259850, nssv14259846, nssv14259851, nssv14259847
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCAMTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221286
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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