A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043213



Internal ID18785744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20729747..20844186hg38UCSC Ensembl
Innerchr15:20935076..21049515hg19UCSC Ensembl
Innerchr15:19183227..19314115hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38114440
hg19114440
hg18130889
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3540129, nssv3716033
Samples
Known GenesCXADRP2, LOC646214, NBEAP1, 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)nsv1043213
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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