A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088188



Internal ID21491372
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 StatusS
Merged Variantsnsv5585780
Supporting Variants
SamplesNA19238
Known GenesNSRP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088188
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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