A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925844



Internal ID22701071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7200202..7200473hg38UCSC Ensembl
chr12:7352798..7353069hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366055
Samples
Known GenesPEX5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925844
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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