A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503769



Internal ID280584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64168034..64295062hg38UCSC Ensembl
chr14:64634752..64761780hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38127029
hg19127029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698186
Samples
Known GenesESR2, MIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503769
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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