A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483520



Internal ID22541427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41232219..41269154hg38UCSC Ensembl
chr22:41628223..41665158hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3836936
hg1936936
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881657
Supporting Variants
Samples
Known GenesCHADL, MIR6889, RANGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483520
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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