A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008777



Internal ID19097995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196820420..196859808hg38UCSC Ensembl
Innerchr1:196789550..196828938hg19UCSC Ensembl
Innerchr1:195056173..195095561hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3839389
hg1939389
hg1839389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502233
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)nsv1008777
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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