A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13689592



Internal ID21211445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215021384..215021436hg38UCSC Ensembl
chr1:215194727..215194779hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2801377
Supporting Variants
Samples
Known GenesKCNK2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13689592
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.28125


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