A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114432



Internal ID21409349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53868486..53868554hg38UCSC Ensembl
chr2:54095623..54095691hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5584314
Supporting Variants
SamplesHG00512
Known GenesPSME4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114432
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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