A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875188



Internal ID22650144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195253217..195418186hg38UCSC Ensembl
chr1:195222347..195387316hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38164970
hg19164970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356048
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875188
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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