A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15178927



Internal ID21317723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211111841..211111959hg38UCSC Ensembl
chr1:211285183..211285301hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3941780
Supporting Variants
SamplesHG002
Known GenesKCNH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15178927
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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