A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169667



Internal ID21313478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47160290hg38UCSC Ensembl
Outerchr20:47148347..47161314hg38UCSC Ensembl
Innerchr20:45780106..45788929hg19UCSC Ensembl
Outerchr20:45776986..45789953hg19UCSC Ensembl
Innerchr20:45213513..45222336hg18UCSC Ensembl
Outerchr20:45210393..45223360hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3812968
hg1912968
hg1812968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14245674, nssv14251011, nssv14244976, nssv14249723, nssv14247836, nssv14249972, nssv14245894, nssv14249642, nssv14245887, nssv14242849, nssv14248459, nssv14244427
SamplesNGO_13, MLY_1, MLY_12, PML_1, SNI_9, NGO_14, NGO_19, NGO_20, MLY_7, NGO_16, MLY_10, NGO_15
Known GenesEYA2
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169667
Frequency
Sample Size93
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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