A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143293



Internal ID21420365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56216028..56216028hg38UCSC Ensembl
chr5:55511855..55511855hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5643004
Supporting Variants
SamplesHG00731
Known GenesANKRD55
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143293
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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