A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14244715



Internal ID21310744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12458215..12550364hg38UCSC Ensembl
Outerchr19:12456625..12557003hg38UCSC Ensembl
Innerchr19:12569029..12661178hg19UCSC Ensembl
Outerchr19:12567439..12667817hg19UCSC Ensembl
Innerchr19:12430029..12522178hg18UCSC Ensembl
Outerchr19:12428439..12528817hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38100379
hg19100379
hg18100379
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169602
Supporting Variants
SamplesPML_1
Known GenesZNF564, ZNF709
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14244715
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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