A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042946



Internal ID18785477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129746052..129822685hg38UCSC Ensembl
Innerchr11:129615947..129692580hg19UCSC Ensembl
Innerchr11:129121157..129197790hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3876634
hg1976634
hg1876634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514601
Samples
Known GenesTMEM45B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042946
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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