A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5585780



Internal ID21534328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30123052..30123122hg38UCSC Ensembl
chr17:28450070..28450140hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17088188
SamplesNA19238
Known GenesNSRP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5585780
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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