A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17362277



Internal ID22587946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132619201..132619201hg38UCSC Ensembl
chr12:133195787..133195787hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967838
Supporting Variants
Samples
Known GenesP2RX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17362277
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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