A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028341



Internal ID18770872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23550380..24287905hg38UCSC Ensembl
Innerchr8:23407893..24145418hg19UCSC Ensembl
Innerchr8:23463838..24201363hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38737526
hg19737526
hg18737526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685377
Samples
Known GenesNKX2-6, NKX3-1, SLC25A37, STC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028341
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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