A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053552



Internal ID19142771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20078801..22014043hg38UCSC Ensembl
Innerchr15:20284054..22301994hg19UCSC Ensembl
Innerchr15:18544068..19803358hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381935243
hg192017941
hg181259291
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2190n100
Supporting Variantsnssv3715998, nssv3715999, nssv3536608, nssv3715997, nssv3715996, nssv3536609, nssv3536610
Samples
Known GenesCHEK2P2, CT60, 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)nsv1053552
Frequency
Sample Size11257
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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