A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216242



Internal ID22362297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168371338..168415964hg38UCSC Ensembl
Outerchr1:168340576..168385202hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264457, nssv14264464, nssv14264463, nssv14264465, nssv14264460, nssv14264461, nssv14264462, nssv14264458, nssv14264459
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100505918, MIR557
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216242
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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