A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17349724



Internal ID22575469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209586219..209587913hg38UCSC Ensembl
chr1:209759564..209761258hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381695
hg191695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880308
Supporting Variants
Samples
Known GenesCAMK1G
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17349724
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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