A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914213



Internal ID22689430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6537213..6537304hg38UCSC Ensembl
chr12:6646379..6646470hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355856
Samples
Known GenesGAPDH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914213
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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