A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676821



Internal ID15066787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2140902hg38UCSC Ensembl
Innerchr12:2245636..2250068hg19UCSC Ensembl
Innerchr12:2115897..2120329hg18UCSC Ensembl
Innerchr12:2115897..2120329hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
hg174433
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516496
Supporting Variants
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676821
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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