A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871753



Internal ID22646691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68176302..68176369hg38UCSC Ensembl
chr1:68641985..68642052hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379296
Samples
Known GenesGNG12-AS1, WLS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871753
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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