A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002868



Internal ID18840921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2107351..2107466hg38UCSC Ensembl
Outerchr12:2216517..2216632hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149365
Supporting Variants
SamplesKWB1
Known GenesCACNA1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002868
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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