A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758128



Internal ID20533988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64544662..64544662hg38UCSC Ensembl
chr2:64771796..64771796hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16267028
Samples
Known GenesAFTPH
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758128
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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