A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509803



Internal ID286446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10000..28000hg38UCSC Ensembl
chr12:77740..95739hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3818001
hg1918000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054818
Samples
Known GenesLOC100288778
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509803
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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