A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039431



Internal ID19128650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20235273..20934206hg38UCSC Ensembl
Innerchr15:20440526..21139535hg19UCSC Ensembl
Innerchr15:18700540..19404194hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38698934
hg19699010
hg18703655
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2222n100
Supporting Variantsnssv3713577, nssv3539470, nssv3539471
Samples
Known GenesCHEK2P2, 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)nsv1039431
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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