A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049370



Internal ID18791901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30209610..30633390hg38UCSC Ensembl
Innerchr15:30501813..30925593hg19UCSC Ensembl
Innerchr15:28289105..28712885hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38423781
hg19423781
hg18423781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2504n100
Supporting Variantsnssv3546641
Samples
Known GenesARHGAP11B, CHRFAM7A, DKFZP434L187, GOLGA8H, LOC101059918, ULK4P1, ULK4P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049370
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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