A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747172



Internal ID20523189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63031069..63269807hg38UCSC Ensembl
chr12:63424849..63663587hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38238739
hg19238739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16269089
Samples
Known GenesAVPR1A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747172
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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