A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341271



Internal ID22282109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39045052..39045116hg38UCSC Ensembl
chr8:38902571..38902635hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220480
Supporting Variants
SamplesNA19239
Known GenesADAM9
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341271
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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