A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4390252



Internal ID21381387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237879561..237879664hg38UCSC Ensembl
chr2:238788203..238788306hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706983
Samples
Known GenesRAMP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4390252
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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