A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15705349



Internal ID21377625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244839100..244839500hg38UCSC Ensembl
chr1:245002402..245002802hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4389527
Supporting Variants
Samples
Known GenesCOX20
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15705349
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0316092


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