A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382712



Internal ID22440582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28353520..28353520hg38UCSC Ensembl
chr17:26680546..26680546hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970938
Supporting Variants
Samples
Known GenesPOLDIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382712
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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