A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044393



Internal ID19133612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20056971..21096875hg38UCSC Ensembl
Innerchr15:20262224..21302204hg19UCSC Ensembl
Innerchr15:18522238..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381039905
hg191039981
hg181044626
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n100
Supporting Variantsnssv3538394, nssv3538396, nssv3538393, nssv3715868, nssv3715866, nssv3715867, nssv3538395
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, 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)nsv1044393
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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