A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047597



Internal ID18790128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:48345836..48456074hg38UCSC Ensembl
Innerchr15:48638033..48748271hg19UCSC Ensembl
Innerchr15:46425325..46535563hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38110239
hg19110239
hg18110239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552378
Samples
Known GenesFBN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047597
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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