A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009246



Internal ID19098464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769640..196832930hg38UCSC Ensembl
Innerchr1:196738770..196802060hg19UCSC Ensembl
Innerchr1:195005393..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3863291
hg1963291
hg1863291
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524n100
Supporting Variantsnssv3705401, nssv3483252, nssv3493362
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)nsv1009246
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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