A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383092



Internal ID22440962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45657352..45657352hg38UCSC Ensembl
chr1:46123024..46123024hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961167
Supporting Variants
Samples
Known GenesGPBP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383092
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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