A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005078



Internal ID19094295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196788663..196820733hg38UCSC Ensembl
Innerchr1:196757793..196789863hg19UCSC Ensembl
Innerchr1:195024416..195056486hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3832071
hg1932071
hg1832071
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n100
Supporting Variantsnssv3497784, nssv3485828, nssv3501568
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005078
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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