A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545347



Internal ID15986070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9020352..9072997hg38UCSC Ensembl
Innerchr1:9080411..9133056hg19UCSC Ensembl
Innerchr1:9002998..9055643hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3852646
hg1952646
hg1852646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173658
Samples1780854205_A
Known GenesSLC2A5, SLC2A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545347
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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