A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575955



Internal ID21524389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10200480..10200541hg38UCSC Ensembl
chr2:10340606..10340667hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107805
SamplesHG00732
Known GenesC2orf48
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575955
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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