A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6043204



Internal ID21952515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83892328..83892328hg38UCSC Ensembl
chr1:84358011..84358011hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521781
Samples
Known GenesMIR548AP, TTLL7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6043204
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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