A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896972



Internal ID172137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209629834..209629911hg38UCSC Ensembl
chr1:209803179..209803256hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436847
Supporting Variants
Samples
Known GenesLAMB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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