A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627906



Internal ID21576211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40768082..40768082hg38UCSC Ensembl
chr5:40768184..40768184hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138612
SamplesHG02492
Known GenesPRKAA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627906
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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