A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013541



Internal ID19102759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196874041..196893138hg38UCSC Ensembl
Innerchr1:196843171..196862268hg19UCSC Ensembl
Innerchr1:195109794..195128891hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3819098
hg1919098
hg1819098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv557n100
Supporting Variantsnssv3494171
Samples
Known GenesCFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013541
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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