A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005393



Internal ID18747924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54741809..54804866hg38UCSC Ensembl
Innerchr1:55207482..55270539hg19UCSC Ensembl
Innerchr1:54980070..55043127hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3863058
hg1963058
hg1863058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv166n100
Supporting Variantsnssv3473563
Samples
Known GenesMROH7-TTC4, PARS2, TTC22, TTC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005393
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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