A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998616



Internal ID19158152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196778768..196801995hg38UCSC Ensembl
Innerchr1:196747898..196771125hg19UCSC Ensembl
Innerchr1:195014521..195037748hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3823228
hg1923228
hg1823228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv533n100
Supporting Variantsnssv3705426, nssv3705427, nssv3500184, nssv3705425, nssv3501947, nssv3495719
Samples
Known GenesCFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998616
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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