A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459998



Internal ID15520063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194311489..194427146hg38UCSC Ensembl
Innerchr2:195176213..195291870hg19UCSC Ensembl
Innerchr2:194884458..195000115hg18UCSC Ensembl
Innerchr2:195001719..195117376hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38115658
hg19115658
hg18115658
hg17115658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv484n27
Supporting Variantsnssv536636
Samples1798860114_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)nsv459998
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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