A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006540



Internal ID19095757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105625662..106132079hg38UCSC Ensembl
Innerchr1:106168284..106674701hg19UCSC Ensembl
Innerchr1:105969807..106476224hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38506418
hg19506418
hg18506418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488803
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)nsv1006540
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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