A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929607



Internal ID22704863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48635969..48637017hg38UCSC Ensembl
chr12:49029752..49030800hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358263
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929607
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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