A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456000



Internal ID234069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150228680..150234893hg38UCSC Ensembl
chr6:150549816..150556029hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386214
hg196214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989689
Samples
Known GenesPPP1R14C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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