A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14339648



Internal ID22231009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27251264..27251339hg38UCSC Ensembl
chr8:27108781..27108856hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226612
Supporting Variants
SamplesHG00733
Known GenesSTMN4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14339648
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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