A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001540



Internal ID18744071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180163553..180210921hg38UCSC Ensembl
Innerchr1:180132688..180180056hg19UCSC Ensembl
Innerchr1:178399311..178446679hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3847369
hg1947369
hg1847369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv475n100
Supporting Variantsnssv3500855
Samples
Known GenesFLJ23867, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001540
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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