A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281665



Internal ID22254725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:39416066..39457596hg38UCSC Ensembl
Outerchr9:39416063..41602614hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3841531
hg192186552
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221485
Supporting Variants
SamplesNA19238
Known GenesFAM74A1, FAM74A3, LOC653501, SPATA31A1, SPATA31A2, SPATA31A3, SPATA31A4, SPATA31A5, SPATA31A7, ZNF658, ZNF658B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281665
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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