A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6054844



Internal ID21964077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227574496..227574496hg38UCSC Ensembl
chr1:227762197..227762197hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17531295
Samples
Known GenesZNF678
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6054844
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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