A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224621



Internal ID22367993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:213270834..213336054hg38UCSC Ensembl
Outerchr2:214135558..214200778hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg383921
hg193921
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265150, nssv14265149, nssv14265145, nssv14265146, nssv14265147, nssv14265143, nssv14265144, nssv14265142, nssv14265148
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLOC100130451, SPAG16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224621
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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