A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17143676



Internal ID21420516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56178850..56178850hg38UCSC Ensembl
chr5:55474677..55474677hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5624580
Supporting Variants
SamplesHG00731
Known GenesANKRD55
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17143676
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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