A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459085



Internal ID15519150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117480985..117558733hg38UCSC Ensembl
Innerchr2:118238561..118316309hg19UCSC Ensembl
Innerchr2:117955031..118032779hg18UCSC Ensembl
Innerchr2:117954791..118032539hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3877749
hg1977749
hg1877749
hg1777749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535919
Samples1780862598_A
Known Genes
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)nsv459085
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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