A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962763



Internal ID22737698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32752947..32752947hg38UCSC Ensembl
chr1:33218548..33218548hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386883
Samples
Known GenesKIAA1522
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962763
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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