A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989750



Internal ID21899093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64510937..64911807hg38UCSC Ensembl
chr2:64738071..65138941hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38400871
hg19400871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518562
Samples
Known GenesAFTPH, LOC339807, LOC400958, MIR4434, SERTAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989750
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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