A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041720



Internal ID19130939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97228..154673hg38UCSC Ensembl
Innerchr12:206394..263839hg19UCSC Ensembl
Innerchr12:76655..134100hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857446
hg1957446
hg1857446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3513361
Samples
Known GenesIQSEC3, LOC574538
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041720
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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