A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464631



Internal ID242506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118991354..118992550hg38UCSC Ensembl
chr6:119312519..119313715hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381197
hg191197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987732
Samples
Known GenesFAM184A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464631
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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