A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999388



Internal ID19158924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196745680..196789017hg38UCSC Ensembl
Innerchr1:196714810..196758147hg19UCSC Ensembl
Innerchr1:194981433..195024770hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3843338
hg1943338
hg1843338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv512n100
Supporting Variantsnssv3704897, nssv3485923, nssv3704896
Samples
Known GenesCFH, CFHR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999388
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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