A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482932



Internal ID22540838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37093704..37095773hg38UCSC Ensembl
chr22:37489744..37491813hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382070
hg192070
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5873701
Supporting Variants
Samples
Known GenesTMPRSS6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482932
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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