A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000954



Internal ID18743485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180158481..180222116hg38UCSC Ensembl
Innerchr1:180127616..180191251hg19UCSC Ensembl
Innerchr1:178394239..178457874hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3863636
hg1963636
hg1863636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476n100
Supporting Variantsnssv3499243, nssv3495564, nssv3502730, nssv3488865
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)nsv1000954
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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