A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013000



Internal ID18755531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179620058..179659401hg38UCSC Ensembl
Innerchr1:179589193..179628536hg19UCSC Ensembl
Innerchr1:177855816..177895159hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3839344
hg1939344
hg1839344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3493992
Samples
Known GenesTDRD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013000
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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