A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961043



Internal ID22736003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6868107..6868107hg38UCSC Ensembl
chr1:6928167..6928167hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373175
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961043
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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