A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17381240



Internal ID22439110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44119829..44121824hg38UCSC Ensembl
chr13:44693965..44695960hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381996
hg191996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935815
Supporting Variants
Samples
Known GenesSMIM2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17381240
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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