A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262981



Internal ID22299624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1016742..1058044hg38UCSC Ensembl
Outerchr19:1016741..1058043hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384110
hg194110
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250239
Supporting Variants
SamplesNA19240
Known GenesABCA7, CNN2, TMEM259
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262981
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