A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439766



Internal ID22230767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213588..143213645hg38UCSC Ensembl
chr8:144295463..144295520hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219345
Supporting Variants
SamplesHG00733
Known GenesGPIHBP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14439766
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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