A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947922



Internal ID22723414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32785950..32785950hg38UCSC Ensembl
chr9:32785948..32785948hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430234
Samples
Known GenesTMEM215
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947922
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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