A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008256



Internal ID19097475
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3494358, nssv3493107, nssv3497495, nssv3495513
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)nsv1008256
Frequency
Sample Size11257
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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