A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065971



Internal ID21434439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47184459..47184459hg38UCSC Ensembl
chr1:47650131..47650131hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620356
Supporting Variants
SamplesHG00731
Known GenesPDZK1IP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065971
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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