A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377249



Internal ID22435119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30042381..30056265hg38UCSC Ensembl
chr16:30053702..30067586hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3813885
hg1913885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928823
Supporting Variants
Samples
Known GenesALDOA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377249
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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