A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341276



Internal ID22127084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39150936..39151036hg38UCSC Ensembl
chr8:39008455..39008555hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216768
Supporting Variants
SamplesHG00512
Known GenesADAM32
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341276
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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