A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113454



Internal ID21505609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46911648..46913585hg38UCSC Ensembl
chr2:47138787..47140724hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381938
hg191938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572418
Supporting Variants
SamplesNA19650
Known GenesMCFD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113454
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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