A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997711



Internal ID19157248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196819859..196926705hg38UCSC Ensembl
Innerchr1:196788989..196895835hg19UCSC Ensembl
Innerchr1:195055612..195162458hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38106847
hg19106847
hg18106847
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544n100
Supporting Variantsnssv3498362, nssv3496063
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)nsv997711
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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