A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282907



Internal ID22187751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:100041449..100117856hg38UCSC Ensembl
Outerchr9:102803731..102880138hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3876408
hg1976408
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222497
Supporting Variants
SamplesHG00731
Known GenesERP44, INVS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282907
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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