A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007590



Internal ID18750121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180152345..180267317hg38UCSC Ensembl
Innerchr1:180121480..180236452hg19UCSC Ensembl
Innerchr1:178388103..178503075hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38114973
hg19114973
hg18114973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv474n100
Supporting Variantsnssv3493610
Samples
Known GenesFLJ23867, LHX4, QSOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007590
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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