A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048394



Internal ID19137613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20248994..22300068hg38UCSC Ensembl
Innerchr15:20454247..22588019hg19UCSC Ensembl
Innerchr15:18714261..20089383hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382051075
hg192133773
hg181375123
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2191n100
Supporting Variantsnssv3534827, nssv3534831, nssv3534829, nssv3534828, nssv3534830
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nsv1048394
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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