A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012477



Internal ID19101694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105431888..105701309hg38UCSC Ensembl
Innerchr1:105974510..106243931hg19UCSC Ensembl
Innerchr1:105776033..106045454hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38269422
hg19269422
hg18269422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701139
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)nsv1012477
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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