A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221485



Internal ID22365858
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281664, nssv14281665
SamplesNA19238, HG00513
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)nsv3221485
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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