A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5625476



Internal ID21573781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136225530..136225530hg38UCSC Ensembl
chr5:135561218..135561218hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139244
SamplesHG03486
Known GenesTRPC7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5625476
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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