A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755926



Internal ID20531786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29643425..29643425hg38UCSC Ensembl
chr12:29796358..29796358hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294670
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755926
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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