A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5577484



Internal ID21525938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227264352..227264642hg38UCSC Ensembl
chr1:227452053..227452343hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062881
SamplesNA19239
Known GenesCDC42BPA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5577484
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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