A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690209



Internal ID15080175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2138013hg38UCSC Ensembl
Innerchr12:2245636..2247179hg19UCSC Ensembl
Innerchr12:2115897..2117440hg18UCSC Ensembl
Innerchr12:2115897..2117440hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381544
hg191544
hg181544
hg171544
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
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)nssv690209
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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