A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125836



Internal ID21489059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139955640..139955640hg38UCSC Ensembl
chr5:139335225..139335225hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384497
hg194497
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5635974
Supporting Variants
SamplesNA18939
Known GenesNRG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125836
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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