A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050622



Internal ID18793153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:114121123..114275850hg38UCSC Ensembl
Innerchr13:114886598..115041325hg19UCSC Ensembl
Innerchr13:113904700..114059427hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38154728
hg19154728
hg18154728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3713325
Samples
Known GenesCDC16, RASA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050622
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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