A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048606



Internal ID18791137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:41809496..41900562hg38UCSC Ensembl
Innerchr15:42101694..42192760hg19UCSC Ensembl
Innerchr15:39888986..39980052hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3891067
hg1991067
hg1891067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2582n100
Supporting Variantsnssv3552274
Samples
Known GenesEHD4, JMJD7, JMJD7-PLA2G4B, MAPKBP1, MIR4310, PLA2G4B, SPTBN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048606
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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