A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357005



Internal ID22582674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123622864..123623134hg38UCSC Ensembl
chr12:124107411..124107681hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936535
Supporting Variants
Samples
Known GenesEIF2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357005
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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