A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258046



Internal ID22200997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:49632855..49692498hg38UCSC Ensembl
Outerchr1:50098527..50158170hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3859644
hg1959644
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202354
Supporting Variants
SamplesHG00732
Known GenesAGBL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258046
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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