A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520739



Internal ID15101346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94271406..94276428hg38UCSC Ensembl
Innerchr12:94665182..94670204hg19UCSC Ensembl
Innerchr12:93189313..93194335hg18UCSC Ensembl
Innerchr12:93167650..93172672hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385023
hg195023
hg185023
hg175023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692988, nssv676415, nssv674871
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520739
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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