A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548603



Internal ID322338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116135870..116135921hg38UCSC Ensembl
chr6:116457033..116457084hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987441
Samples
Known GenesNT5DC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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