A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4751342



Internal ID20527203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56178853..56178853hg38UCSC Ensembl
chr5:55474680..55474680hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16265134
Samples
Known GenesANKRD55
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4751342
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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