A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494358



Internal ID19081999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769481..196832195hg38UCSC Ensembl
Innerchr1:196738611..196801325hg19UCSC Ensembl
Innerchr1:195005234..195067948hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3862715
hg1962715
hg1862715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008256
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)nssv3494358
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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