A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567096



Internal ID21515427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11829662..11829757hg38UCSC Ensembl
chr1:11889719..11889814hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17060868
SamplesHG02011
Known GenesCLCN6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567096
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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