A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545407



Internal ID15986130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11000018..11377969hg38UCSC Ensembl
Innerchr1:11060075..11438026hg19UCSC Ensembl
Innerchr1:10982662..11360613hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38377952
hg19377952
hg18377952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709928
Samples
Known GenesANGPTL7, EXOSC10, MASP2, MTOR, MTOR-AS1, SRM, TARDBP, UBIAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545407
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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