A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4741084



Internal ID20517061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51960974..51961107hg38UCSC Ensembl
chr12:52354758..52354891hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16285763
Samples
Known GenesACVR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4741084
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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