A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911921



Internal ID8702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42585053..42585678hg38UCSC Ensembl
chr2:42812193..42812818hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433958
Supporting Variants
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911921
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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