A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578337



Internal ID21526803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56776934..56777272hg38UCSC Ensembl
chr1:57242607..57242945hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065654
SamplesHG00731
Known GenesC1orf168
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578337
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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