A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555727



Internal ID328876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37309570..37309621hg38UCSC Ensembl
chr6:37277346..37277397hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982140
Samples
Known GenesTBC1D22B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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