A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756717



Internal ID20532577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222951470..222951470hg38UCSC Ensembl
chr1:223124812..223124812hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262562
Samples
Known GenesDISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756717
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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