A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17459354



Internal ID22517237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204506441..204521719hg38UCSC Ensembl
chr1:204475569..204490847hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3815279
hg1915279
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829001
Supporting Variants
Samples
Known GenesMDM4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17459354
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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