A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17350171



Internal ID22575840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105219416..105219416hg38UCSC Ensembl
chr12:105613194..105613194hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968957
Supporting Variants
Samples
Known GenesAPPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17350171
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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