A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213665



Internal ID22360540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45485420..45505683hg38UCSC Ensembl
Outerchr1:45951092..45971355hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261789, nssv14261793, nssv14261792, nssv14261790, nssv14261791
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesCCDC163P, MMACHC, TESK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213665
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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