A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604727



Internal ID21524834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237521772..237521772hg38UCSC Ensembl
chr2:238430415..238430415hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112188
SamplesHG03125
Known GenesMLPH
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604727
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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