A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14391560



Internal ID22290793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494746..120497451hg38UCSC Ensembl
chr9:123257024..123259729hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382706
hg192706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3286458
Supporting Variants
SamplesNA19240
Known GenesCDK5RAP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14391560
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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