A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457303



Internal ID15170682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:383623..445662hg38UCSC Ensembl
Innerchr16:433623..495662hg19UCSC Ensembl
Innerchr16:373624..435663hg18UCSC Ensembl
Innerchr16:373624..435663hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3862040
hg1962040
hg1862040
hg1762040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534520
Samples1780862415_A
Known GenesDECR2, LOC100134368, NME4, RAB11FIP3
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)nsv457303
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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