A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517471



Internal ID15444764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:364930..382751hg38UCSC Ensembl
Innerchr16:414930..432751hg19UCSC Ensembl
Innerchr16:354931..372752hg18UCSC Ensembl
Innerchr16:354931..372752hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3817822
hg1917822
hg1817822
hg1717822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676851, nssv692915, nssv656947, nssv656779, nssv652116, nssv660431, nssv657136, nssv689453, nssv688023, nssv692244, nssv675522, nssv656881, nssv674339, nssv681829, nssv679775, nssv677727, nssv669579
Samples
Known GenesLOC100134368, MRPL28, TMEM8A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517471
Frequency
Sample Size2026
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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