A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753017



Internal ID20528877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62730818..62730818hg38UCSC Ensembl
chr2:62957953..62957953hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293952
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753017
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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