A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595992



Internal ID21544599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6551833..6552280hg38UCSC Ensembl
chr11:6573063..6573510hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075283
SamplesHG00732
Known GenesDNHD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5595992
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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