A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258337



Internal ID22192272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203702347..203720869hg38UCSC Ensembl
Outerchr1:203671475..203689997hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3818523
hg1918523
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204244
Supporting Variants
SamplesHG00731
Known GenesATP2B4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258337
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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