A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891664



Internal ID22666705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113454459..113539778hg38UCSC Ensembl
chr3:113173306..113258625hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3885320
hg1985320
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406598
Samples
Known GenesSIDT1, SPICE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891664
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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