A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047835



Internal ID19137054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20380723..20944934hg38UCSC Ensembl
Innerchr15:20585976..21150263hg19UCSC Ensembl
Innerchr15:18845990..19414922hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38564212
hg19564288
hg18568933
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2246n100
Supporting Variantsnssv3537269, nssv3714650, nssv3714651
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)nsv1047835
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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