A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147217



Internal ID346399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160691932..160699958hg38UCSC Ensembl
chr1:160661722..160669748hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg388027
hg198027
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28n206
Supporting Variantsnssv16891088
Samples
Known GenesCD48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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