A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049269



Internal ID18791800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43600874..43703678hg38UCSC Ensembl
Innerchr15:43893072..43995876hg19UCSC Ensembl
Innerchr15:41680364..41783168hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38102805
hg19102805
hg18102805
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2584n100
Supporting Variantsnssv3552321, nssv3552320, nssv3552319
Samples
Known GenesCATSPER2, CKMT1A, RNU6-28P, STRC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049269
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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