A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138749



Internal ID337933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160690587..160700587hg38UCSC Ensembl
chr1:160660377..160670377hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891085
Samples
Known GenesCD48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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