A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749960



Internal ID20525995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49119232..49119319hg38UCSC Ensembl
chr12:49513015..49513102hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16264446
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749960
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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