A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012292



Internal ID19101510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72284165..72346757hg38UCSC Ensembl
Innerchr1:72749848..72812440hg19UCSC Ensembl
Innerchr1:72522436..72585028hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3862593
hg1962593
hg1862593
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3701278, nssv3480525, nssv3470058
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)nsv1012292
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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