A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282905



Internal ID22187476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86042776..86116715hg38UCSC Ensembl
Outerchr9:88657691..88731630hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3873940
hg1973940
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219255
Supporting Variants
SamplesHG00731
Known GenesGOLM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282905
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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