A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689539



Internal ID15426191
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516684
Supporting Variants
Samples
Known GenesMYO3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689539
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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