A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045556



Internal ID19134775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45485198..45592656hg38UCSC Ensembl
Innerchr15:45777396..45884854hg19UCSC Ensembl
Innerchr15:43564688..43672146hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38107459
hg19107459
hg18107459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552363
Samples
Known GenesBLOC1S6, HMGN2P46, SLC30A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045556
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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