A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011246



Internal ID18753780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19534203..19609142hg38UCSC Ensembl
Innerchr1:19860697..19935636hg19UCSC Ensembl
Innerchr1:19733284..19808223hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3874940
hg1974940
hg1874940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3700300
Samples
Known GenesMINOS1, MINOS1-NBL1, RPS14P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011246
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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