A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170193



Internal ID21314254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47006903..47055338hg38UCSC Ensembl
Outerchr2:47001555..47058575hg38UCSC Ensembl
Innerchr2:47234042..47282477hg19UCSC Ensembl
Outerchr2:47228694..47285714hg19UCSC Ensembl
Innerchr2:47087546..47135981hg18UCSC Ensembl
Outerchr2:47082198..47139218hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3857021
hg1957021
hg1857021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241655
SamplesNGO_23
Known GenesTTC7A
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170193
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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