A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457337



Internal ID15170716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1813519..1855005hg38UCSC Ensembl
Innerchr16:1863520..1905006hg19UCSC Ensembl
Innerchr16:1803521..1845007hg18UCSC Ensembl
Innerchr16:1803521..1845007hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3841487
hg1941487
hg1841487
hg1741487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534544
Samples1782681169_A
Known GenesFAHD1, HAGH, MEIOB
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)nsv457337
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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