A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144743



Internal ID343948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70587528..70651528hg38UCSC Ensembl
chr18:68254764..68318764hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3864001
hg1964001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719239
Samples
Known GenesGTSCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144743
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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