A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570387



Internal ID21518752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136195278..136199930hg38UCSC Ensembl
chr6:136516416..136521068hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg384653
hg194653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17140111
SamplesHG02587
Known GenesPDE7B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570387
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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