A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17097535



Internal ID21487377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842513..48842638hg38UCSC Ensembl
chr12:49236296..49236421hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5597728
Supporting Variants
SamplesNA18534
Known GenesDDX23
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17097535
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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