A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057629



Internal ID106274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56275519..56275588hg38UCSC Ensembl
chr12:56669303..56669372hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143106
Supporting Variants
Samples
Known GenesCS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001094


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