A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16294670



Internal ID20503888
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 StatusS
Merged Variantsnsv4755926
Supporting Variants
Samples
Known GenesTMTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16294670
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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