A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142420



Internal ID341620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30395345..30406345hg38UCSC Ensembl
chr8:30252861..30263861hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3811001
hg1911001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009304
Samples
Known GenesRBPMS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142420
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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