A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204410



Internal ID20771450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74200685..74203636hg38UCSC Ensembl
chr1:74666369..74669320hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382952
hg192952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327794
Supporting Variants
Samples
Known GenesFPGT, FPGT-TNNI3K
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204410
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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