A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263385



Internal ID22253363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:90917684..90984495hg38UCSC Ensembl
Outerchr1:91383241..91450052hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3866812
hg1966812
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204037
Supporting Variants
SamplesNA19238
Known GenesZNF644
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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