A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963365



Internal ID22738300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33862822..33862822hg38UCSC Ensembl
chr1:34328423..34328423hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378238
Samples
Known GenesCSMD2, HMGB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963365
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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