A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030993



Internal ID18773526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:57372120..60663649hg38UCSC Ensembl
Innerchr6:57236918..57631396hg19UCSC Ensembl
Innerchr6:57344877..57739355hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383291530
hg19394479
hg18394479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5967n100
Supporting Variantsnssv3657508
Samples
Known GenesPRIM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030993
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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