A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578500



Internal ID21526969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101297211..101297268hg38UCSC Ensembl
chr2:101913673..101913730hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17106993
SamplesHG03371
Known GenesRNF149
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578500
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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