A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928436



Internal ID22703675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62708360..62712831hg38UCSC Ensembl
chr12:63102140..63106611hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg384472
hg194472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363662
Samples
Known GenesPPM1H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928436
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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