A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142968



Internal ID342169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48635931..48637078hg38UCSC Ensembl
chr12:49029714..49030861hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058178
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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