A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005143



Internal ID19094360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:114266971..114279199hg38UCSC Ensembl
Innerchr1:114809593..114821821hg19UCSC Ensembl
Innerchr1:114611116..114623344hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3812229
hg1912229
hg1812229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3489938
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)nsv1005143
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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