A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14349836



Internal ID22301187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120494746..120497452hg38UCSC Ensembl
chr9:123257024..123259730hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg382707
hg192707
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528381
Supporting Variants
SamplesNA19240
Known GenesCDK5RAP2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14349836
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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