A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382748



Internal ID22440618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21138076..21138076hg38UCSC Ensembl
chr17:21041389..21041389hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968302
Supporting Variants
Samples
Known GenesDHRS7B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382748
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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