A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272555



Internal ID22133849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:15740980..15767644hg38UCSC Ensembl
Outerchr3:15782487..15809151hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217597
Supporting Variants
SamplesHG00513
Known GenesANKRD28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272555
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