A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889996



Internal ID167452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121389835..121661317hg38UCSC Ensembl
chr1:121131696..121403115hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38271483
hg19271420
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138536
Supporting Variants
Samples
Known GenesEMBP1, SRGAP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


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