A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912930



Internal ID22688146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40294986..40295170hg38UCSC Ensembl
chr8:40152505..40152689hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17444637
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912930
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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