A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014797



Internal ID19104014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196829423..196916555hg38UCSC Ensembl
Innerchr1:196798553..196885685hg19UCSC Ensembl
Innerchr1:195065176..195152308hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3887133
hg1987133
hg1887133
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv544n100
Supporting Variantsnssv3705446, nssv3705447, nssv3705448
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)nsv1014797
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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