A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5924640



Internal ID22699867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2937342..2972624hg38UCSC Ensembl
chr12:3046508..3081790hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835283
hg1935283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355163
Samples
Known GenesTEAD4, TULP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5924640
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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