A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363975



Internal ID22589644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130807400..130807570hg38UCSC Ensembl
chr12:131291945..131292115hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944138
Supporting Variants
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363975
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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