A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217337



Internal ID22363034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10937776..10971543hg38UCSC Ensembl
Outerchr1:10997833..11031600hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259971, nssv14259970, nssv14259972, nssv14259965, nssv14259966, nssv14259968, nssv14259964, nssv14259967, nssv14259969
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC1orf127
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217337
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer