A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169940



Internal ID21314001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8858645..8861159hg38UCSC Ensembl
Outerchr12:8856464..8863598hg38UCSC Ensembl
Innerchr12:9011241..9013755hg19UCSC Ensembl
Outerchr12:9009060..9016194hg19UCSC Ensembl
Innerchr12:8902508..8905022hg18UCSC Ensembl
Outerchr12:8900327..8907461hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387135
hg197135
hg187135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14241751
SamplesMLY_1
Known GenesA2ML1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169940
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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