A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547640



Internal ID16335049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121742511..121743365hg38UCSC Ensembl
Innerchr1:121484309..121485163hg19UCSC Ensembl
Innerchr1:121185832..121186686hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg38855
hg19855
hg18855
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv723041, nssv723039, nssv723040, nssv723042, nssv723038
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547640
Frequency
Sample Size17421
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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