A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203155



Internal ID20770195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91095691..93048861hg38UCSC Ensembl
chr1:91561248..93514418hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381953171
hg191953171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334739
Supporting Variants
Samples
Known GenesBRDT, BTBD8, C1orf146, CDC7, EPHX4, EVI5, FAM69A, GFI1, GLMN, HFM1, KIAA1107, RPAP2, RPL5, SNORA66, SNORD21, TGFBR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203155
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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