A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044240



Internal ID18786771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97602456..97803043hg38UCSC Ensembl
Innerchr12:97996234..98196821hg19UCSC Ensembl
Innerchr12:96520365..96720952hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38200588
hg19200588
hg18200588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1547n100
Supporting Variantsnssv3524836
Samples
Known GenesLOC643711
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044240
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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