A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552048



Internal ID325460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90780490..90780538hg38UCSC Ensembl
chr14:91246834..91246882hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697215
Samples
Known GenesTTC7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552048
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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