A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17370692



Internal ID22596361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32484098..32485138hg38UCSC Ensembl
chr14:32953304..32954344hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5927829
Supporting Variants
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17370692
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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