A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930806



Internal ID22706079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:9277706..9277817hg38UCSC Ensembl
chr18:9277704..9277815hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390630
Samples
Known GenesANKRD12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930806
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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