A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431769



Internal ID21393771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42084199..42085198hg38UCSC Ensembl
chr12:42478001..42479000hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751041, nssv15750528
SamplesBTQ038, NB10
Known GenesGXYLT1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431769
Frequency
Sample Size15
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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