A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001342



Internal ID19090559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241134600..241182133hg38UCSC Ensembl
Innerchr1:241297900..241345433hg19UCSC Ensembl
Innerchr1:239364523..239412056hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3847534
hg1947534
hg1847534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3484565
Samples
Known GenesRGS7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001342
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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