A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494936



Internal ID19082577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196814484..196878339hg38UCSC Ensembl
Innerchr1:196783614..196847469hg19UCSC Ensembl
Innerchr1:195050237..195114092hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863856
hg1963856
hg1863856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013569
Supporting Variants
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3494936
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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