A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044173



Internal ID19133392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20327352..20988783hg38UCSC Ensembl
Innerchr15:20532605..21194112hg19UCSC Ensembl
Innerchr15:18792619..19458771hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38661432
hg19661508
hg18666153
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2246n100
Supporting Variantsnssv3536181, nssv3536180
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044173
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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