A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622673



Internal ID21570978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127881318..127881318hg38UCSC Ensembl
chr2:128638892..128638892hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108468
SamplesHG00512
Known GenesAMMECR1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622673
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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