A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757971



Internal ID20533831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48500342..48500342hg38UCSC Ensembl
chr12:48894125..48894125hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282384
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757971
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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