A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143928



Internal ID343130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51069034..51069756hg38UCSC Ensembl
chr12:51462817..51463539hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058552
Samples
Known GenesCSRNP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143928
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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