A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089279



Internal ID21433177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44142132..44142181hg38UCSC Ensembl
chr13:44716268..44716317hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5593712
Supporting Variants
SamplesHG00731
Known GenesSMIM2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089279
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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