A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367228



Internal ID22592897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62846334..62846501hg38UCSC Ensembl
chr12:63240114..63240281hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940599
Supporting Variants
Samples
Known GenesPPM1H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367228
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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