A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6143990



Internal ID343192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12107368..12112307hg38UCSC Ensembl
chr12:12260302..12265241hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384940
hg194940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055933
Samples
Known GenesMIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6143990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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