A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997383



Internal ID19156921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820420..196932623hg38UCSC Ensembl
Innerchr1:196789550..196901753hg19UCSC Ensembl
Innerchr1:195056173..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38112204
hg19112204
hg18112204
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540n100
Supporting Variantsnssv3483203, nssv3494515, nssv3492251, nssv3488656, nssv3498141, nssv3497189, nssv3499216
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997383
Frequency
Sample Size11257
Observed Gain2
Observed Loss5
Observed Complex0
Frequencyn/a


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