A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420806



Internal ID199899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148012000..148029843hg38UCSC Ensembl
chr1:147484232..147502086hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3817844
hg1917855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890185
Samples
Known GenesPDZK1P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420806
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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