A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282835



Internal ID22124283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135566512..135587811hg38UCSC Ensembl
Outerchr9:138458358..138479657hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3821300
hg1921300
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219654
Supporting Variants
SamplesHG00512
Known GenesLOC100130954, PAEP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282835
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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