A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048549



Internal ID18791080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:32166460..32535323hg38UCSC Ensembl
Innerchr15:32458661..32827524hg19UCSC Ensembl
Innerchr15:30245953..30614816hg18UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38368864
hg19368864
hg18368864
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2544n100
Supporting Variantsnssv3547733, nssv3547734, nssv3547732
Samples
Known GenesCHRNA7, GOLGA8K, GOLGA8O, ULK4P1, ULK4P2, ULK4P3, WHAMMP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048549
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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