A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17092650



Internal ID21462930
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 StatusS
Merged Variantsnsv5601209
Supporting Variants
SamplesHG03009
Known GenesITGA5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17092650
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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