A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254957



Internal ID22199979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236753146..236786390hg38UCSC Ensembl
Outerchr1:236916446..236949690hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3833245
hg1933245
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191556
Supporting Variants
SamplesHG00732
Known GenesACTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254957
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