A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423199



Internal ID202221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:175928054..175945557hg38UCSC Ensembl
chr1:175897190..175914693hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3817504
hg1917504
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893571
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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