A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17129839



Internal ID21416108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186547093..186547093hg38UCSC Ensembl
chr4:187468247..187468247hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5642477
Supporting Variants
SamplesHG00731
Known GenesMTNR1A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17129839
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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