A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547612



Internal ID16335021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:118177333..118254181hg38UCSC Ensembl
Innerchr1:118719956..118796804hg19UCSC Ensembl
Innerchr1:118521479..118598327hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3876849
hg1976849
hg1876849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723005
Samples
Known GenesSPAG17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547612
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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