A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943276



Internal ID22718723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30936518..30940530hg38UCSC Ensembl
chr13:31510655..31514667hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384013
hg194013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373433
Samples
Known GenesTEX26
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943276
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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