A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011387



Internal ID19100604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196788663..196830363hg38UCSC Ensembl
Innerchr1:196757793..196799493hg19UCSC Ensembl
Innerchr1:195024416..195066116hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3841701
hg1941701
hg1841701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n100
Supporting Variantsnssv3705431
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)nsv1011387
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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