A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010736



Internal ID19099953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196801553..196832930hg38UCSC Ensembl
Innerchr1:196770683..196802060hg19UCSC Ensembl
Innerchr1:195037306..195068683hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3831378
hg1931378
hg1831378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3490456
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)nsv1010736
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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