A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953280



Internal ID22728571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114149222..114149222hg38UCSC Ensembl
chr1:114691844..114691844hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368807
Samples
Known GenesSYT6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953280
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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