A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007912



Internal ID19097131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239142909..239246871hg38UCSC Ensembl
Innerchr1:239306209..239410171hg19UCSC Ensembl
Innerchr1:237372832..237476794hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38103963
hg19103963
hg18103963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705542
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007912
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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