A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439079



Internal ID217625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210111329..210116103hg38UCSC Ensembl
chr1:210284674..210289448hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384775
hg194775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895341
Samples
Known GenesSYT14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439079
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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