A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545352



Internal ID16332761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9258342..9327385hg38UCSC Ensembl
Innerchr1:9318401..9387444hg19UCSC Ensembl
Innerchr1:9240988..9310031hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3869044
hg1969044
hg1869044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv96n54
Supporting Variantsnssv1173659
Samples1780854392_A
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545352
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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