A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974762



Internal ID50552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150261102..150261171hg38UCSC Ensembl
chr5:149640665..149640734hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468555
Supporting Variants
Samples
Known GenesCAMK2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974762
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.144285


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