A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902065



Internal ID2174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37837100..37837158hg38UCSC Ensembl
chr1:38302772..38302830hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425136
Supporting Variants
Samples
Known GenesMTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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