A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17609674



Internal ID21801721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6936739..6936739hg38UCSC Ensembl
chr12:7045902..7045902hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6098245
Supporting Variants
Samples
Known GenesATN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17609674
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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