A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352130



Internal ID22577799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3981246..3986469hg38UCSC Ensembl
chr12:4090412..4095635hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385224
hg195224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914550
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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