A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212673



Internal ID22359849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:201195991..201265973hg38UCSC Ensembl
Outerchr1:201165119..201235101hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265241, nssv14265238, nssv14265235, nssv14265242, nssv14265236, nssv14265240, nssv14265237, nssv14265239
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesIGFN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212673
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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