A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044813



Internal ID19134032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..21096875hg38UCSC Ensembl
Innerchr15:20284054..21302204hg19UCSC Ensembl
Innerchr15:18544068..19566863hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381018075
hg191018151
hg181022796
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2189n100
Supporting Variantsnssv3715989, nssv3536580, nssv3536583, nssv3715990, nssv3536582, nssv3536579, nssv3536578, nssv3536584, nssv3536576, nssv3536575, nssv3536585, nssv3536581, nssv3536586, nssv3536577
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)nsv1044813
Frequency
Sample Size11257
Observed Gain11
Observed Loss3
Observed Complex0
Frequencyn/a


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