A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007444



Internal ID19096663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193238382..193268659hg38UCSC Ensembl
Innerchr1:193207512..193237789hg19UCSC Ensembl
Innerchr1:191474135..191504412hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3830278
hg1930278
hg1830278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv499n100
Supporting Variantsnssv3493464
Samples
Known GenesCDC73
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007444
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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