A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354886



Internal ID22580555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47283230..47286017hg38UCSC Ensembl
chr12:47677013..47679800hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382788
hg192788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943324
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354886
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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