A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363444



Internal ID22589113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49076229..49076708hg38UCSC Ensembl
chr12:49470012..49470491hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944009
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363444
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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