A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890008



Internal ID167463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145104587..145110587hg38UCSC Ensembl
chr1:143898557..143904556hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386001
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139078
Supporting Variants
Samples
Known GenesFAM72D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005712


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