A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685127



Internal ID108793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124952975..124971100hg38UCSC Ensembl
chr12:125437521..125455646hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3818126
hg1918126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504089
Supporting Variants
Samples
Known GenesDHX37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685127
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001563


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