A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943171



Internal ID22718616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67533569..67534340hg38UCSC Ensembl
chr12:67927349..67928120hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366378
Samples
Known GenesLOC100507175
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943171
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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