A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999556



Internal ID19159093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196843388hg38UCSC Ensembl
Innerchr1:196714810..196812518hg19UCSC Ensembl
Innerchr1:194981433..195079141hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3897709
hg1997709
hg1897709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv508n100
Supporting Variantsnssv3483493
Samples
Known GenesCFH, CFHR1, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999556
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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