A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945129



Internal ID22720603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54414587..54414888hg38UCSC Ensembl
chr12:54808371..54808672hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358824
Samples
Known GenesITGA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945129
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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