A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462375



Internal ID15522440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106613714..106663495hg38UCSC Ensembl
Innerchr5:105949415..105999196hg19UCSC Ensembl
Innerchr5:105977314..106027095hg18UCSC Ensembl
Innerchr5:105977314..106027095hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3849782
hg1949782
hg1849782
hg1749782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538553
Samples1780862459_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)nsv462375
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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