A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378202



Internal ID22436072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59406190..59406190hg38UCSC Ensembl
chr1:59871862..59871862hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5953764
Supporting Variants
Samples
Known GenesFGGY
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378202
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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