A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872980



Internal ID22647922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210715407..210716173hg38UCSC Ensembl
chr1:210888749..210889515hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368714
Samples
Known GenesKCNH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872980
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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