A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462727



Internal ID15176106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9020352..9072997hg38UCSC Ensembl
Innerchr1:9080411..9133056hg19UCSC Ensembl
Innerchr1:9002998..9055643hg18UCSC Ensembl
Innerchr1:9014677..9067322hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3852646
hg1952646
hg1852646
hg1752646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538823
Samples1780854205_A
Known GenesSLC2A5, SLC2A7
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462727
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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