A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938148



Internal ID22713526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53470127..53471321hg38UCSC Ensembl
chr12:53863911..53865105hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367343
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938148
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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