A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889997



Internal ID167453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:121390367..121401050hg38UCSC Ensembl
chr1:121132228..121142910hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3810684
hg1910683
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139101
Supporting Variants
Samples
Known GenesSRGAP2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.373151


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