A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384835



Internal ID22442705
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 Variantsnsv5928403
Supporting Variants
Samples
Known GenesNSRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384835
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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