A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5915723



Internal ID22690941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43694027..43695061hg38UCSC Ensembl
chr11:43715577..43716611hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381035
hg191035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352746
Samples
Known GenesHSD17B12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5915723
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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