A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281262



Internal ID22199591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:101455360..101460038hg38UCSC Ensembl
Outerchr9:104217642..104222320hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg384679
hg194679
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212454
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281262
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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