A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5584232



Internal ID21532768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174233464..174234563hg38UCSC Ensembl
chr1:174202602..174203701hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061933
SamplesNA19238
Known GenesRABGAP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5584232
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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