A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049263



Internal ID19138482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20086048..22308242hg38UCSC Ensembl
Innerchr15:20291301..22681064hg19UCSC Ensembl
Innerchr15:18551315..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382222195
hg192389764
hg181681114
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3537937, nssv3537938, nssv3537936, nssv3537934, nssv3537935
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049263
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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