A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056107



Internal ID105228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7757675..7818502hg38UCSC Ensembl
chr12:7910271..7971098hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3860828
hg1960828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511933
Supporting Variants
Samples
Known GenesNANOG, NANOGNB, SLC2A14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056107
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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