A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048249



Internal ID19137468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20525214..21096875hg38UCSC Ensembl
Innerchr15:20730453..21302204hg19UCSC Ensembl
Innerchr15:18990467..19566863hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38571662
hg19571752
hg18576397
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2246n100
Supporting Variantsnssv3540893, nssv3540892, nssv3540894
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, 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)nsv1048249
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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