A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079383



Internal ID21437689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29643432..29643432hg38UCSC Ensembl
chr12:29796365..29796365hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5652877
Supporting Variants
SamplesHG00731
Known GenesTMTC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079383
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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