A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456971



Internal ID235027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56240961..56242268hg38UCSC Ensembl
chr4:57107127..57108434hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381308
hg191308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950135
Samples
Known GenesKIAA1211
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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