A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522894



Internal ID299150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12719035..12720899hg38UCSC Ensembl
chr17:12622352..12624216hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381865
hg191865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711509
Samples
Known GenesMYOCD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522894
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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