A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008012



Internal ID19097231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829423..196932623hg38UCSC Ensembl
Innerchr1:196798553..196901753hg19UCSC Ensembl
Innerchr1:195065176..195168376hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38103201
hg19103201
hg18103201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544n100
Supporting Variantsnssv3705457, nssv3705454, nssv3705452, nssv3705456, nssv3705450, nssv3484309, nssv3705453, nssv3490204, nssv3705451, nssv3705458, nssv3705455
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008012
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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