A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17444644



Internal ID22502514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66460796..66480798hg38UCSC Ensembl
chr8:67373031..67393033hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3820003
hg1920003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5921571
Supporting Variants
Samples
Known GenesADHFE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17444644
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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