A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047596



Internal ID19136815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20267586..22308242hg38UCSC Ensembl
Innerchr15:20472839..22681064hg19UCSC Ensembl
Innerchr15:18732853..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382040657
hg192208226
hg181499576
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2193n100
Supporting Variantsnssv3534886, nssv3534888, nssv3534887
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)nsv1047596
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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