A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17120089



Internal ID21460359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52952210..52952210hg38UCSC Ensembl
chr4:53818377..53818377hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5623283
Supporting Variants
SamplesHG02818
Known GenesSCFD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17120089
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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