A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545442



Internal ID15986165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12565072..12610391hg38UCSC Ensembl
Innerchr1:12625101..12670396hg19UCSC Ensembl
Innerchr1:12547688..12592983hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3845320
hg1945296
hg1845296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173675
SamplesNINDS_71
Known GenesDHRS3, MIR6730
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545442
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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