A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048903



Internal ID19138122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20372787..21997806hg38UCSC Ensembl
Innerchr15:20578040..22285757hg19UCSC Ensembl
Innerchr15:18838054..19787121hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381625020
hg191707718
hg18949068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2213n100
Supporting Variantsnssv3535833, nssv3535834
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nsv1048903
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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