A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17129972



Internal ID21498001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172484648..172484648hg38UCSC Ensembl
chr5:171911652..171911652hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5628723
Supporting Variants
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17129972
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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