A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6051544



Internal ID21960777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202797058..202797058hg38UCSC Ensembl
chr1:202766186..202766186hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529739
Samples
Known GenesKDM5B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6051544
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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