A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567018



Internal ID21515349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60022254..60022784hg38UCSC Ensembl
chr1:60487926..60488456hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065889
SamplesHG01596
Known GenesC1orf87
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567018
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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