A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065736



Internal ID21474341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40808007..40808057hg38UCSC Ensembl
chr1:41273679..41273729hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5569121
Supporting Variants
SamplesHG03371
Known GenesKCNQ4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065736
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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