A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341331



Internal ID22209263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40612215..40612864hg38UCSC Ensembl
chr8:40469734..40470383hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38650
hg19650
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529570
Supporting Variants
SamplesHG00732
Known GenesZMAT4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341331
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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