A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695313



Internal ID15085279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126339299..126341416hg38UCSC Ensembl
Innerchr12:126823845..126825962hg19UCSC Ensembl
Innerchr12:125389798..125391915hg18UCSC Ensembl
Innerchr12:125348725..125350842hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg382118
hg192118
hg182118
hg172118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515762
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695313
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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