A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357580



Internal ID22583249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110569120..110572288hg38UCSC Ensembl
chr12:111006925..111010093hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383169
hg193169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935968
Supporting Variants
Samples
Known GenesPPTC7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357580
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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