A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256458



Internal ID22117996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123430524..123474288hg38UCSC Ensembl
Outerchr12:123915071..123958835hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382552
hg192552
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243636
Supporting Variants
SamplesHG00512
Known GenesRILPL1, RILPL2, SNRNP35
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256458
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