A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5576607



Internal ID21525047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150411410..150411739hg38UCSC Ensembl
chr1:150383886..150384215hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17061131
SamplesNA19239
Known GenesRPRD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5576607
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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