A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14438565



Internal ID22181707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105533712..105533858hg38UCSC Ensembl
chr8:106545940..106546086hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3285022
Supporting Variants
SamplesHG00514
Known GenesZFPM2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14438565
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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