A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264705



Internal ID22134646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:211882574..211939727hg38UCSC Ensembl
Outerchr2:212747299..212804452hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3857154
hg1957154
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194039
Supporting Variants
SamplesHG00513
Known GenesERBB4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264705
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