A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212135



Internal ID22359475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235546162..235554530hg38UCSC Ensembl
Outerchr1:235709462..235717830hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272490
SamplesHG00512
Known GenesGNG4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212135
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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