A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv544967



Internal ID16332376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1290683..1305643hg38UCSC Ensembl
Innerchr1:1226063..1241023hg19UCSC Ensembl
Innerchr1:1215926..1230886hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3814961
hg1914961
hg1814961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25n54
Supporting Variantsnssv708528
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)nsv544967
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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