A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504134



Internal ID280943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124951135..124951826hg38UCSC Ensembl
chr12:125435681..125436372hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685126
Samples
Known GenesDHX37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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