A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480372



Internal ID22538275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:147580..166198hg38UCSC Ensembl
chr17:1..15989hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3818619
hg1915989
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878415
Supporting Variants
Samples
Known GenesDOC2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480372
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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