A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175402



Internal ID15530870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2116879..2142107hg38UCSC Ensembl
Innerchr12:2226045..2251273hg19UCSC Ensembl
Innerchr12:2096306..2121534hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825229
hg1925229
hg1825229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557034
Supporting Variants
SamplesHGDP01007
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175402
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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