A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579048



Internal ID21527523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101777347..101784975hg38UCSC Ensembl
chr2:102393809..102401437hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg387629
hg197629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107796
SamplesNA19238
Known GenesMAP4K4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579048
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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