A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143317



Internal ID342518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9283525..9300825hg38UCSC Ensembl
chr12:9436121..9453421hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3817301
hg1917301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055802
Samples
Known GenesLOC642846
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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