A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431768



Internal ID21393770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42083199..42086198hg38UCSC Ensembl
chr12:42477001..42480000hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15754317, nssv15747091, nssv15746796, nssv15746293, nssv15748897
SamplesSMI034, MDQ045, BTQ055, BTQ016, NB11
Known GenesGXYLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431768
Frequency
Sample Size15
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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