A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5577247



Internal ID21525697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138171024..138171396hg38UCSC Ensembl
chr6:138492161..138492533hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17148024
SamplesNA19239
Known GenesKIAA1244
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5577247
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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