A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170299



Internal ID21314360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:46022785..46025303hg38UCSC Ensembl
Outerchr12:46016465..46027193hg38UCSC Ensembl
Innerchr12:46416568..46419086hg19UCSC Ensembl
Outerchr12:46410248..46420976hg19UCSC Ensembl
Innerchr12:44702835..44705353hg18UCSC Ensembl
Outerchr12:44696515..44707243hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3810729
hg1910729
hg1810729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252005
SamplesSNI_9
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170299
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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