A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998147



Internal ID19157684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196821594..196847588hg38UCSC Ensembl
Innerchr1:196790724..196816718hg19UCSC Ensembl
Innerchr1:195057347..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3825995
hg1925995
hg1825995
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv547n100
Supporting Variantsnssv3705440
Samples
Known GenesCFHR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998147
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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