A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757270



Internal ID20533130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117792978..117792978hg38UCSC Ensembl
chr12:118230783..118230783hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262940
Samples
Known GenesKSR2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757270
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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