A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516684



Internal ID15443977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170224143..170225823hg38UCSC Ensembl
Innerchr2:171080653..171082333hg19UCSC Ensembl
Innerchr2:170788899..170790579hg18UCSC Ensembl
Innerchr2:170906160..170907840hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
hg171681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv689539, nssv663077, nssv690657, nssv670140
Samples
Known GenesMYO3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516684
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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