A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372496



Internal ID22598165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81029767..81029912hg38UCSC Ensembl
chr14:81496111..81496256hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932551
Supporting Variants
Samples
Known GenesTSHR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372496
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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