A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367265



Internal ID22592934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243928301..243928301hg38UCSC Ensembl
chr1:244091603..244091603hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5957993
Supporting Variants
Samples
Known GenesLOC339529
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367265
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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