A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547002



Internal ID320893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138548935..138548958hg38UCSC Ensembl
chr6:138870072..138870095hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735282
Samples
Known GenesNHSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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