A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575974



Internal ID21524408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40642776..40642881hg38UCSC Ensembl
chr1:41108448..41108553hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065254
SamplesHG00731
Known GenesRIMS3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575974
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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