A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574813



Internal ID21523234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39784524..39784644hg38UCSC Ensembl
chr1:40250196..40250316hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065322
SamplesHG00731
Known GenesBMP8B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574813
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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