A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007334



Internal ID18749865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180157303..180222116hg38UCSC Ensembl
Innerchr1:180126438..180191251hg19UCSC Ensembl
Innerchr1:178393061..178457874hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3864814
hg1964814
hg1864814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476n100
Supporting Variantsnssv3492596
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)nsv1007334
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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