A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5634347



Internal ID21582652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138548935..138548935hg38UCSC Ensembl
chr6:138870072..138870072hg19UCSC 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 Variantsnssv17143513
SamplesHG01114
Known GenesNHSL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5634347
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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