A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417060



Internal ID196266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56719767..56719855hg38UCSC Ensembl
chr1:57185440..57185528hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903046
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417060
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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