A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281355



Internal ID22278153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:66740236..66778497hg38UCSC Ensembl
Outerchr9:40914372..41781755hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3812186
hg1912186
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237729
Supporting Variants
SamplesNA19239
Known GenesLOC653501, SPATA31A4, SPATA31A5, SPATA31A7, ZNF658B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281355
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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