A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265976



Internal ID22275130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:132198556..132282358hg38UCSC Ensembl
Outerchr2:132956129..133039931hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229597
Supporting Variants
SamplesNA19239
Known GenesANKRD30BL, MIR663B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265976
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