A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282863



Internal ID22134459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134795967..134799582hg38UCSC Ensembl
Outerchr9:137687813..137691428hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383616
hg193616
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219112
Supporting Variants
SamplesHG00513
Known GenesCOL5A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282863
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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