A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544968



Internal ID16332377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1290683..1306366hg38UCSC Ensembl
Innerchr1:1226063..1241746hg19UCSC Ensembl
Innerchr1:1215926..1231609hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3815684
hg1915684
hg1815684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25n54
Supporting Variantsnssv708529
Samples
Known GenesACAP3, MIR6726, SCNN1D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv544968
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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