A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570804



Internal ID21519174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227740933..227741054hg38UCSC Ensembl
chr1:227928634..227928755hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062891
SamplesNA19238
Known GenesSNAP47
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570804
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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