A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007203



Internal ID19096421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195703727..195933230hg38UCSC Ensembl
Innerchr1:195672857..195902360hg19UCSC Ensembl
Innerchr1:193939480..194168983hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38229504
hg19229504
hg18229504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704875
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)nsv1007203
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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