A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674871



Internal ID15064837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94271406..94276322hg38UCSC Ensembl
Innerchr12:94665182..94670098hg19UCSC Ensembl
Innerchr12:93189313..93194229hg18UCSC Ensembl
Innerchr12:93167650..93172566hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg384917
hg194917
hg184917
hg174917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520739
Supporting Variants
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674871
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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