A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054002



Internal ID19143221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20647773hg38UCSC Ensembl
Innerchr15:20216943..20853080hg19UCSC Ensembl
Innerchr15:18476957..19113094hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38636084
hg19636138
hg18636138
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2194n100
Supporting Variantsnssv3536961
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054002
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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