A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001230



Internal ID19090447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94619628..94642975hg38UCSC Ensembl
Innerchr1:95085184..95108531hg19UCSC Ensembl
Innerchr1:94857772..94881119hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3823348
hg1923348
hg1823348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465529
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)nsv1001230
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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