A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361371



Internal ID22587040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93016070..93016214hg38UCSC Ensembl
chr12:93409846..93409990hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929132
Supporting Variants
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361371
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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