A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17117475



Internal ID21472422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57660508..57660762hg38UCSC Ensembl
chr20:56235564..56235818hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5603364
Supporting Variants
SamplesHG03125
Known GenesPMEPA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17117475
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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