A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525740



Internal ID15453033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170390882..170392583hg38UCSC Ensembl
Innerchr2:171247392..171249093hg19UCSC Ensembl
Innerchr2:170955638..170957339hg18UCSC Ensembl
Innerchr2:171072899..171074600hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381702
hg191702
hg181702
hg171702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701905
Samples
Known GenesMYO3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525740
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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