A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343308



Internal ID22196693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56845740..56845807hg38UCSC Ensembl
chr8:57758299..57758366hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528309
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343308
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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