A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055622



Internal ID104915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32684061..32688819hg38UCSC Ensembl
chr12:32836995..32841753hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384759
hg194759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500088
Supporting Variants
Samples
Known GenesDNM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055622
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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