A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5566675



Internal ID21515003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8341187..8341521hg38UCSC Ensembl
chr1:8401247..8401581hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067013
SamplesHG03683
Known GenesSLC45A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5566675
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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