A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054547



Internal ID18797078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57308290..57685461hg38UCSC Ensembl
Innerchr15:57600488..57977659hg19UCSC Ensembl
Innerchr15:55387780..55764951hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38377172
hg19377172
hg18377172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3553586
Samples
Known GenesCGNL1, GCOM1, MYZAP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054547
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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