A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264679



Internal ID22145988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:76475249..76563072hg38UCSC Ensembl
Outerchr2:76702375..76790198hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3887824
hg1987824
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204797
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264679
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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