A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612892



Internal ID21561197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16125393..16125393hg38UCSC Ensembl
chr1:16451888..16451888hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061248
SamplesHG02492
Known GenesEPHA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612892
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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