A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042178



Internal ID19131397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20011690..20738717hg38UCSC Ensembl
Innerchr15:20216943..20944046hg19UCSC Ensembl
Innerchr15:18476957..19204074hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38727028
hg19727104
hg18727118
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2187n100
Supporting Variantsnssv3536970
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042178
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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