A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013847



Internal ID19103066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:101563767..101587023hg38UCSC Ensembl
Innerchr1:102029323..102052579hg19UCSC Ensembl
Innerchr1:101801911..101825167hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3823257
hg1923257
hg1823257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3477056
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)nsv1013847
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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