A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012871



Internal ID19102088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787999..196832513hg38UCSC Ensembl
Innerchr1:196757129..196801643hg19UCSC Ensembl
Innerchr1:195023752..195068266hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3844515
hg1944515
hg1844515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n100
Supporting Variantsnssv3498886, nssv3499861, nssv3484317
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)nsv1012871
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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