A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050595



Internal ID18793126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30152061..30633390hg38UCSC Ensembl
Innerchr15:30444264..30925593hg19UCSC Ensembl
Innerchr15:28231556..28712885hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38481330
hg19481330
hg18481330
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2500n100
Supporting Variantsnssv3546518, nssv3546521, nssv3546519, nssv3546520, nssv3721505, nssv3546517, nssv3546522, nssv3546516
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)nsv1050595
Frequency
Sample Size29084
Observed Gain5
Observed Loss3
Observed Complex0
Frequencyn/a


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