A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002871



Internal ID19092088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196779334..196847588hg38UCSC Ensembl
Innerchr1:196748464..196816718hg19UCSC Ensembl
Innerchr1:195015087..195083341hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3868255
hg1968255
hg1868255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv532n100
Supporting Variantsnssv3486438, nssv3487673
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)nsv1002871
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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