A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903911



Internal ID3427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63535835..63544067hg38UCSC Ensembl
chr1:64001506..64009738hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388233
hg198233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422895
Supporting Variants
Samples
Known GenesEFCAB7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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