A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912649



Internal ID22687865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54895354..54897876hg38UCSC Ensembl
chr8:55807914..55810436hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382523
hg192523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439145
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912649
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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