A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829114



Internal ID22604049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214472946..214500075hg38UCSC Ensembl
chr1:214646289..214673418hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3827130
hg1927130
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457725
Samples
Known GenesPTPN14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829114
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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