A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5581633



Internal ID21530135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107827600..107827689hg38UCSC Ensembl
chr2:108444056..108444145hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107177
SamplesHG00731
Known GenesRGPD4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5581633
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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