A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612948



Internal ID21561253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112713249..112713249hg38UCSC Ensembl
chr1:113255871..113255871hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17059971
SamplesHG00864
Known GenesPPM1J
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612948
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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