A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244794



Internal ID21303006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43920820..43985343hg38UCSC Ensembl
Outerchr22:43917969..43986973hg38UCSC Ensembl
Innerchr22:44316700..44381223hg19UCSC Ensembl
Outerchr22:44313849..44382853hg19UCSC Ensembl
Innerchr22:42648033..42712556hg18UCSC Ensembl
Outerchr22:42645182..42714186hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3869005
hg1969005
hg1869005
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170232
Supporting Variants
SamplesMLY_3
Known GenesPNPLA3, SAMM50
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244794
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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