A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749523



Internal ID20525554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46943994..46945394hg38UCSC Ensembl
chr12:47337777..47339177hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286219
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749523
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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