A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125981



Internal ID21458870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150284573..150284573hg38UCSC Ensembl
chr5:149664136..149664136hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638185
Supporting Variants
SamplesHG02587
Known GenesCAMK2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125981
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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