A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047974



Internal ID18790505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30094196..30488448hg38UCSC Ensembl
Innerchr15:30386399..30780651hg19UCSC Ensembl
Innerchr15:28173691..28567943hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38394253
hg19394253
hg18394253
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2498n100
Supporting Variantsnssv3545695, nssv3545696, nssv3545697, nssv3721481, nssv3721482
Samples
Known GenesCHRFAM7A, DKFZP434L187, GOLGA8J, GOLGA8T, LOC101059918, ULK4P1, ULK4P2, ULK4P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047974
Frequency
Sample Size29084
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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