A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546128



Internal ID15986851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43301467..43451738hg38UCSC Ensembl
Innerchr1:43767138..43917409hg19UCSC Ensembl
Innerchr1:43539725..43689996hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38150272
hg19150272
hg18150272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712728
Samples
Known GenesCDC20, ELOVL1, HYI, MED8, MIR6734, MIR6735, MPL, SZT2, TIE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546128
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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