A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013306



Internal ID18755837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46427523..46657048hg38UCSC Ensembl
Innerchr3:46469014..46698538hg19UCSC Ensembl
Innerchr3:46444018..46673542hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38229526
hg19229525
hg18229525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589739
Samples
Known GenesLOC100132146, LRRC2, LRRC2-AS1, LTF, RTP3, TDGF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013306
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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