A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282820



Internal ID22122403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121601204..121620697hg38UCSC Ensembl
Outerchr9:124363483..124382976hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3819494
hg1919494
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224635
Supporting Variants
SamplesHG00512
Known GenesDAB2IP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282820
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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