A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997733



Internal ID19157270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196779623..196913266hg38UCSC Ensembl
Innerchr1:196748753..196882396hg19UCSC Ensembl
Innerchr1:195015376..195149019hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38133644
hg19133644
hg18133644
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528n100
Supporting Variantsnssv3485512
Samples
Known GenesCFHR1, CFHR3, CFHR4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997733
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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