A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3493612



Internal ID19081253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787999..196830363hg38UCSC Ensembl
Innerchr1:196757129..196799493hg19UCSC Ensembl
Innerchr1:195023752..195066116hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3842365
hg1942365
hg1842365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009530
Supporting Variants
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)nssv3493612
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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