A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15706571



Internal ID21378847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68373397..68373598hg38UCSC Ensembl
chr2:68600529..68600730hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4389747
Supporting Variants
Samples
Known GenesPLEK
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nssv15706571
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.114943


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